Strain Name:
B6J.129S1-Snrpntm1(SNRPN)Rsnk/Mmmh
Stock Number:
043828-MU
Citation ID:
RRID:MMRRC_043828-MU
Other Names:
PWS-IC Hs,

Gene Information

Snrpntm1(SNRPN)Rskn
Name: small nuclear ribonucleoprotein N, targeted mutation 1, James Resnik
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 7
Snrpn
Name: small nuclear ribonucleoprotein N
Synonyms: Peg4, 2410045I01Rik, Pwcr1
Type: Gene
Species: Mus musculus (mouse)
Chromosome: 7
NCBI: 20646
Homologene: 68297
SNRPN
Name: small nuclear ribonucleoprotein polypeptide N
Type: Gene
Species: Homo sapiens (human)
Chromosome: 15
Genetic Alterations
6 kb of the human PWS-IC element (SNRPN - NCBI Gene ID:6638) replaces 6.9 kb of the syntenic region of the mouse.
Genotype Determination
ES Cell Line
CJ7
Phenotype

Homozygous: As an imprinted gene we have not investigated homozygotes.

Hetero/Hemizygous: The phenotype of the mice depends on whether they inherit the mutation from the mother of sire. Maternal inheritance leads to obesity in males and females. Paternal inheritance leads to partial neonatal death. Different subsets of Prader Willi and Angelman genes are expressed depending on the mode of inheritance.

MeSH Terms
  • Angelman Syndrome/genetics
  • Animals
  • Autoantigens
  • Conserved Sequence
  • DNA Methylation
  • Disease Models, Animal
  • Gene Expression Regulation
  • Gene Silencing
  • Genomic Imprinting/genetics
  • Humans
  • Infant, Newborn/growth & development
  • Inheritance Patterns
  • Mice
  • Mice, Inbred C57BL
  • Obesity/genetics
  • Phenotype
  • Prader-Willi Syndrome/genetics
  • Promoter Regions, Genetic/genetics
  • Ribonucleoproteins, Small Nuclear/genetics
  • Ubiquitin-Protein Ligases/genetics
  • snRNP Core Proteins
Strain Development
The mutation was created in CJ7 embryonic stem cells by gene targeting. The PGK-Neo cassette was removed in culture. The allele has been backcrossed over 21 generations to C57BL/6J (Jax Strain #000664).
Suggested Control Mice
Wild-type littermates
  • Metabolism
  • Neurobiology
  • Obesity
Donor
Resnick [Ph.D.], James
Primary Reference

Johnstone KA, DuBose AJ, Futtner CR, Elmore MD, Brannan CI, Resnick JL. Ahuman imprinting centre demonstrates conserved acquisition but divergedmaintenance of imprinting in a mouse model for Angelman syndrome imprintingdefects. Hum Mol Genet. 2006 Feb 1;15(3):393-404. Epub 2005 Dec 20. (Medline PMID: 16368707)

Colony and Husbandry Information

Colony Surveillance Program and Current Health Reports

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@missouri.edu .
Coat Color
Black
MMRRC Breeding System
Backcross
Breeding Scheme(s)
Backcross of heterozygotes.
Generation
N21
Overall Breeding Performance
Good
NOTE: "Hemizygote" as used here refers to males carrying a mutation on the X Chromosome or mice of either sex carrying an inserted transgene with no homologous allele on the other chromosome.
Viability and Fertility: Female Male Comments
Homozygotes are viable: Undetermined Undetermined
Homozygotes are fertile: Undetermined Undetermined
Hetero/Hemizygotes are fertile: Yes Reduced
Age Reproductive Decline: 6 to 8 months Undetermined
Bred to Homozygosity
No
Average litter size
4-6
Recommended wean age
4 weeks
Average Pups Weaned
4-6

Order Request Information

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

Cryopreserved material may be available upon request, please inquire to mmrrc@missouri.edu for more information.

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.

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 $)
*Shipping & Handling not included*
Units Notes
043828-MU-EMBRYO Cryo-preserved embryos $1,038.00 / Non-Profit Aliquot Approximate quantity2 : 20-40 embryos / aliquot
043828-MU-SPERM Cryo-preserved spermatozoa $437.00 / Non-Profit Aliquot Approximate quantity3
043828-MU-RESUS Litter recovered from cryo-archive $2,624.00 / Non-Profit Litter Recovered litter4; additional fees for any special requests.

1 The distribution fee covers the expense of rederiving mice from a live mouse; 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 contains a sufficient number of embryos (in one or more vials or straws and based on the transfer success rate of the MMRRC facility) to transfer into one to three recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.

3 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.

4 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.

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.