Strain Detail Sheet

Strain Name    :

C.Cg-Msx1tm1Rilm/Mmucd

Stock Number :

000068-UCD

Other Names   :

C.Cg-Msx1tm1Rilm, C.Cg-Msx1tm1Rilm/Mmcd

Gene Information

Gene Details [Including genotyping protocols]

(provided by MGI)
Allele Symbol: Msx1tm1Rilm
Name: targeted mutation 1, Richard Maas
Chromosome: 5; 21.0 cM
Alteration at locus: Knockout
Gene Symbol: Msx1
Name: msh homeobox 1
Chromosome: 5
Alteration at locus: Knockout

Genetic Alterations:
A neo cassette was inserted into exon 2.

Genotype Determination:

ES Cell Line: J1 derived from 129S4/SvJae

Strain Description [Including phenotype, strain background, strain development and suggested control mice]

Phenotype

All Msx1 -/- newborn mice die within 24 hours of birth. All Msx1 -/- manifest a cleft secondary palate, a deficiency of alveolar mandible and maxilla, and a failure of tooth development. These mice also exhibit abnormalities of the nasal, frontal, and parietal bones, and of the malleus in the middle ear.


Mammalian Phenotype Terms:(provided by MGI)      Extend all MPTs
      assigned by genotype

The following phenotype information may relate to one or more alleles on a genetic background differing from this MMRRC strain.
Msx1tm1Rilm/Msx1tm1Rilm
        either: (involves: 129S4/SvJae-Msx1<tm1Rilm>) or (involves: 129S4/SvJae * BALB/c) or (involves: 129X1/SvJae * C57BL/6J)
  • mortality/aging
    • complete neonatal lethality (MGI Ref ID J:17489)
      • all die within 24 hours of birth
  • craniofacial phenotype
    • abnormal cranium morphology (MGI Ref ID J:17489)
      • skull is rounded in appearance
      • abnormal frontal bone morphology (MGI Ref ID J:17489)
        • frontal bone is more rounded and medial portions are absent resulting in an enlarged anterior fontanelle
      • abnormal mandible morphology (MGI Ref ID J:17489)
        • exhibit foreshortening of the distal tooth-bearing mandible and an abnormal lower border and anterior segment, including the symphysis menti
        • short mandible (MGI Ref ID J:17489)
          • mandible is reduced in length by 5%
      • abnormal metopic suture morphology (MGI Ref ID J:17489)
        • enlargement of the sutural (Wormian) bone in the frontal (metopic) suture
      • absent alveolar process (MGI Ref ID J:17489)
        • the alveolar processes of the maxilla and the mandible are absent
      • absent maxillary shelf (MGI Ref ID J:17489)
      • absent palatine shelf (MGI Ref ID J:17489)
      • absent premaxilla (MGI Ref ID J:17489)
      • large anterior fontanelle (MGI Ref ID J:17489)
        • results from the absence of medial portions of the frontal bones
      • overlapping parietal bones (MGI Ref ID J:17489)
        • display a small region of overlapping parietal bones
      • short maxilla (MGI Ref ID J:17489)
      • small nasal bone (MGI Ref ID J:17489)
        • nasal bones are smaller and more rectangular
    • abnormal tooth morphology (MGI Ref ID J:17489)
      • absent upper incisors (MGI Ref ID J:17489)
        • the upper incisors of the maxilla and incisor tooth buds in the mandible are absent
      • growth retardation of molars (MGI Ref ID J:17489)
        • first and second molar teeth are profoundly retarded at the tooth bud stage
    • absent malleus processus brevis (MGI Ref ID J:17489)
    • cleft secondary palate (MGI Ref ID J:17489)
      • complete cleft of the secondary palate
      • abnormal palatal shelf fusion at midline (MGI Ref ID J:17489)
        • palatal shelves at E14.75 are properly elevated but have not fused with each other or with the nasal septum
    • short malleus (MGI Ref ID J:17489)
      • malleus is reduced in height
  • hearing/vestibular/ear phenotype
    • absent malleus processus brevis (MGI Ref ID J:17489)
    • short malleus (MGI Ref ID J:17489)
      • malleus is reduced in height
  • homeostasis/metabolism phenotype
    • cyanosis (MGI Ref ID J:17489)
      • newborns become cyanotic prior to death
  • respiratory system phenotype
    • abnormal breathing pattern (MGI Ref ID J:17489)
      • newborns exhibit gasping respirations prior to death
  • behavior/neurological phenotype
    • abnormal eating/drinking behavior (MGI Ref ID J:17489)
      • stomachs are devoid or milk and are distended with air
  • skeleton phenotype
    • abnormal cranium morphology (MGI Ref ID J:17489)
      • skull is rounded in appearance
      • abnormal frontal bone morphology (MGI Ref ID J:17489)
        • frontal bone is more rounded and medial portions are absent resulting in an enlarged anterior fontanelle
      • abnormal mandible morphology (MGI Ref ID J:17489)
        • exhibit foreshortening of the distal tooth-bearing mandible and an abnormal lower border and anterior segment, including the symphysis menti
        • short mandible (MGI Ref ID J:17489)
          • mandible is reduced in length by 5%
      • abnormal metopic suture morphology (MGI Ref ID J:17489)
        • enlargement of the sutural (Wormian) bone in the frontal (metopic) suture
      • absent alveolar process (MGI Ref ID J:17489)
        • the alveolar processes of the maxilla and the mandible are absent
      • absent maxillary shelf (MGI Ref ID J:17489)
      • absent palatine shelf (MGI Ref ID J:17489)
      • absent premaxilla (MGI Ref ID J:17489)
      • large anterior fontanelle (MGI Ref ID J:17489)
        • results from the absence of medial portions of the frontal bones
      • overlapping parietal bones (MGI Ref ID J:17489)
        • display a small region of overlapping parietal bones
      • short maxilla (MGI Ref ID J:17489)
      • small nasal bone (MGI Ref ID J:17489)
        • nasal bones are smaller and more rectangular
    • absent malleus processus brevis (MGI Ref ID J:17489)
    • short malleus (MGI Ref ID J:17489)
      • malleus is reduced in height
  • digestive/alimentary phenotype
    • absent maxillary shelf (MGI Ref ID J:17489)
    • absent palatine shelf (MGI Ref ID J:17489)
    • cleft secondary palate (MGI Ref ID J:17489)
      • complete cleft of the secondary palate
      • abnormal palatal shelf fusion at midline (MGI Ref ID J:17489)
        • palatal shelves at E14.75 are properly elevated but have not fused with each other or with the nasal septum
Msx1tm1Rilm/Msx1tm1Rilm
        involves: 129S4/SvJae
  • craniofacial phenotype
    • abnormal middle ear ossicle morphology (MGI Ref ID J:59750)
      • the dorsal edge of the tympanic cavity does not develop a clear epitympanic pocket as in wild-type mice
      • absent malleus processus brevis (MGI Ref ID J:59750)
        • malleus lacks the short process
  • hearing/vestibular/ear phenotype
    • abnormal middle ear ossicle morphology (MGI Ref ID J:59750)
      • the dorsal edge of the tympanic cavity does not develop a clear epitympanic pocket as in wild-type mice
      • absent malleus processus brevis (MGI Ref ID J:59750)
        • malleus lacks the short process
  • skeleton phenotype
    • abnormal middle ear ossicle morphology (MGI Ref ID J:59750)
      • the dorsal edge of the tympanic cavity does not develop a clear epitympanic pocket as in wild-type mice
      • absent malleus processus brevis (MGI Ref ID J:59750)
        • malleus lacks the short process

Strain of Origin: 129S4/SvJae

Strain genetic background: BALB/c from ICR

Strain Development: BALB/c blastocysts injected with ES cells were transferred into pseudopregnant recipients. Male chimaeras, identified by agouti coat color, were mated with BALB/cTac females.

Suggested Control Mice: Wild-type littermates

Research Applications

  • This mutant serves as a genetic model for cleft palate and oligodontia.

Strain Origin

Donor: Richard Maas, MD. PhD. Brigham and Women's Hospital / Harvard Medical School

Primary Reference:

Satokata I, Maas R. Msx1 deficient mice exhibit cleft palate and abnormalities of cranialfacial and tooth development. Nature Genetics. Apr 1994, v6, p348. (Medline PMID: 7914451)

Colony and Husbandry Information

Special Considerations

None

Health Status Report

Mice recovered from a cryo-archive will have health surveillance performed on recipient females. Health reports will be provided prior to shipment. If you require additional health status information, please email mmrrc@ucdavis.edu.

Appearance

Coat color: White

Other:

Breeding

MMRRC Breeding System: Sib mating

Breeding Scheme(s):

  • Heterozygous female x Sibling wildtype male
  • Wildtype female x Sibling heterozygous male

Generation: N10 to Balb/cTac F2 As of: 4/26/2004

Overall Breeding Performance: Good

Reproductive Statistics

Viability and Fertility:FemaleMale
Homozygotes are viable: No No
Homozygotes are fertile: No No
Heterozygotes are fertile: Yes Yes
 
Age Reproductive Decline: 36 weeks 36 weeks

Average litter size: 8

Recommended wean age: 3 weeks

Order Request Information

Availability Level

Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.

Conditions of Distribution [Including applicable technology transfer agreements]

Distribution of this strain requires submission of the MMRRC Conditions of Use (COU). A link to the COU web form will be provided via email after an order has been placed; the form should be completed then or the email forwarded to your institutional official for completion.

The donor or their institution limits the distribution to non-profit institutions only.

Fees

Additional charges may apply for any special requests. Shipping costs are in addition to the basic distribution/resuscitation fees. Information on shipping costs and any additional charges will be provided by the supplying MMRRC facility.

Click button to Request this one strain. (Use the MMRRC Catalog Search to request more than one strain.)
MMRRC Item # - Description Distribution
Fee/unit (US $)
Units Notes
000068-UCD-RESUSLitter recovered from cryo-archive
$2,022.00
Non-Profit
Litter Recovered litter1; additional fees for any special requests.
000068-UCD-SPERMCryo-preserved spermatozoa
$437.00
Non-Profit
Aliquot Approximate quantity.2
000068-UCD-EMBRYOCryo-preserved embryos
$1,038.00
Non-Profit
Aliquot Approximate quantity3: 20-40 embryos / aliquot

1 The distribution fee covers the expense of resuscitating mice from the cryo-archive; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

2 An aliquot is one straw or vial with sufficient sperm to recover at least one litter of mice, as per provided protocols, when performed at the MMRRC facility. The MMRRC makes no guarantee concerning the success of these procedures when performed outside the MMRRC facilities.

3 An aliquot contains a sufficient number of embryos (in one or more vials and based on the transfer success rate of the MMRRC facility) to transfer to at least two recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.

To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section above). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.



To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.



The MMRRC is a collaborative effort, funded by grants from DPCPSI of the NIH.

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