Strain Name:
FVB.Cg-Ahi1tm1Rujf/Mmjax
Stock Number:
065562-JAX
Citation ID:
RRID:MMRRC_065562-JAX
Other Names:
Ahi1tm1Rujf

Strain Information

Ahi1tm1Rujf
Name: Abelson helper integration site 1; targeted mutation 1, Russell J Ferland
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 10
Alteration at locus: Knockout
Ahi1
Name: Abelson helper integration site 1
Synonyms: D10Bwg0629e, Jouberin, 1700015F03Rik, Ahi-1
Type: Gene
Species: Mouse
Chromosome: 10
Alteration at locus: Knockout
NCBI: 52906
VEGA: 10
Homologene: 9762
Genetic Alterations
The mouse genomic region coding Ahi1 was identified through DNA database searches. A BAC (RPCI23-225H6) or genomic DNA, from C57BL/6J mice, which contained the complete genomic structure of Ahi1, was used as a template for generating the 5'-arms of the targeting construct. Our targeting strategy involved deleting coding exons 2–5 (genomic exons 3–6), producing a downstream frameshift and premature stop codon. The targeting construct was a modified pSA-BGAL-PGK-NEO plasmid containing a phosphoglycerate kinase (PGK) promoter-neomycin resistance (Neo) geneflanked by short polylinker sites, and a PGK-promoter driving a diphtheria toxin cassette. A 5-kb fragment of intronic region surrounding and containing exon 2 (containing the ATG start-site) of Ahi1 was PCR amplified (using primers containing AscI/PacI sites) and subcloned into the AscI/PacI sites to form the 5'-arm of the targeting vector. A 7.5-kb fragment of intronic region surrounding and containing exons 7–9 (containing coding exons 6–8) of Ahi1 was PCR-amplified (using primers containing NheI/SalI sites) and subcloned into the NheI/SalI sites to form the 3'-arm of the targeting vector. The vector was linearized with AscI and electroporated into Bruce-4 embryonic stem cells resulting in positive recombinant heterozygous clones. Targeting of Ahi1 was determined by Southern blotting of EcoRV digested genomic DNA with a PCR-amplified 1.1-kb probe derived from a genomic region upstream of the 5'-arm of the targeting vector. Southern blotting confirmed homologous recombination and two independent cell lines were injected into blastocysts. Correctly targeted embryonic stem cells were injected into recipient C57BL/6-Tyr blastocysts (Jackson Laboratories, Bar Harbor, ME, USA). Resulting chimeric males were crossed to wild-type C57BL/6J females to obtain germline transmission of the mutant allele. Genotyping was performed by PCR using primers specific to a region in exon 4 and the ensuing intronic region for detecting the wildtype allele. Heterozygous Ahi1 mice were backcrossed >10 generations onto a BALB/cJ (N10+) background. Heterozygous Ahi1 mice were backcrossed >10 generations onto an FVB/NJ (N10+) background.
Genotype Determination
ES Cell Line
Bruce4
Mammalian Phenotype Terms
Allelic Composition: (Genetic Background: )

MeSH Terms
  • Abnormalities, Multiple/embryology
  • Abnormalities, Multiple/genetics
  • Abnormalities, Multiple/pathology
  • Adaptor Proteins, Vesicular Transport
  • Animals
  • Cell Differentiation
  • Cerebellum/abnormalities
  • Cerebellum/embryology
  • Cerebellum/pathology
  • Desmin/genetics
  • Desmin/metabolism
  • Eye Abnormalities/embryology
  • Eye Abnormalities/genetics
  • Eye Abnormalities/pathology
  • Kidney Diseases, Cystic/embryology
  • Kidney Diseases, Cystic/genetics
  • Kidney Diseases, Cystic/pathology
  • Locomotion/genetics
  • Mice
  • Mice, Knockout
  • Muscle Development
  • Muscle Strength/genetics
  • Myoblasts/metabolism
  • Myoblasts/pathology
  • Neurodevelopmental Disorders/genetics
  • Neurodevelopmental Disorders/metabolism
  • Neurodevelopmental Disorders/pathology
  • Proto-Oncogene Proteins/deficiency
  • Proto-Oncogene Proteins/metabolism
  • Reflex, Righting/genetics
  • Retina/abnormalities
  • Retina/embryology
  • Retina/pathology
Strain Development
The original heterozygous Ahi1 mice on a C57BL6/J background were backcrossed at least 10 generations onto an FVB/NJ (N10+) background.
Suggested Control Mice
FVB/NJ
MMRRC Genetic QC Summary
The MMRRC Centers have developed a genetic QC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC congenic and inbred strains. For more information on when data may be available, or to request genotyping for a strain of interest, please contact csmmrrc@jax.org. Older strains may not have this information.
  • Cell Biology
  • Developmental Biology
  • Endocrine Deficiency
  • Models for Human Disease
  • Neurobiology
  • Reproduction
Donor
Russ Ferland, Ph.D., Albany Medical College.
Primary Reference

Bourgeois JR, Ferland RJ. Loss of the neurodevelopmental Joubert syndromecausing protein, Ahi1, causes motor and muscle development delays independent of central nervous system involvement. Dev Biol. 2019 Apr 1;448(1):36-47. doi:10.1016/j.ydbio.2019.01.014. Epub 2019 Jan 26. PubMed PMID: 30695685; PubMedCentral (Medline PMCID: PMC6445374)

Colony and Husbandry Information

The Ahi1-/- pups are visibly smaller than littermates at P2.5. They have a failure to thrive, and ~50% will die during the post-weaning stage. Keeping the litters smaller (by culling unnecessary mice) can help in increasing survivability.

Cryo-recovered strains distributed by the MMRRC at JAX are shipped to the customer from the Pathogen & Opportunistic-Free Animal Room G200 - see https://www.jax.org/jax-mice-and-services/customer-support/customer-service/animal-health/health-status-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 csmmrrc@jax.org.
Coat Color
White
Eye
Pink
MMRRC Breeding System
Sib-mating and backcrossing
Generation
N10+ (FVB/NJ), F12
Overall Breeding Performance
Excellent
Viability and Fertility: Female Male Comments
Homozygotes are viable: Reduced Reduced
Homozygotes are fertile: Sterile Sterile
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: 7 to 9 months 10 to 12 months
Average litter size
10 to 14
Recommended wean age
3 Weeks
Average Pups Weaned
7 to 9

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 csmmrrc@jax.org 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.

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
065562-JAX-SPERM Cryo-preserved spermatozoa $437.00 / $437.00
Non-Profit / For-Profit
Aliquot Approximate quantity3
065562-JAX-RESUS Litter recovered from cryo-archive $2,022.00 / $2,022.00
Non-Profit / For-Profit
Litter Recovered litter4; additional fees for any special requests.
Cryopreserved material may be available upon request, please inquire to csmmrrc@jax.org for more information.

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.