Strain Name: |
B6;129S7-Cyp7a1tm1Rus/J |
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Stock Number: |
002751 |
Availability: | Repository-Cryopreserved |
General Terms and Conditions |
| Genes & Alleles | Cyp7a1; Cyp7a1tm1Rus; |
Type JAX® GEMM® Strain - Mutant Stock Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Targeted Mutation Species laboratory mouse Donating Investigator David Russell, Univ of Texas Southwest Med Ctr Dallas Generation N1 Appearance
black
Related Genotype: a/aStrain Description
Heterozygous carriers of the disrupted Cyp7a1 gene are phenotypically normal, viable, and fertile. Homozygous animals appear normal at birth but most die within the first 18 days of life. The 10-15% of homozygotes that survive are fertile. Newborn animals with a homozygous mutation in the Cyp7a1 gene lack bile acids, causing fat malabsorption as manifest by severe steatorrhea (fatty stools), deficiency of fat-soluble vitamins, and wasting due to malnutrition. Approximately 40% of the homozygotes die between postnatal days 1-4; 45% between days 11-18. Vitamin supplements given to nursing mothers can prevent deaths during the early period; cholic acid supplements in the mother's diet can prevent deaths in the later period. Mutant pups born to homozygous mothers not maintained on dietary supplements are noticeably smaller than age-matched heterozygous and wild type siblings. The skin of nursing homozygotes can be dry and scaly in appearance. Nursing heterozygous and homozygous mothers and their mutant pups not treated with cholic acid develop an unusually oily coat. No immunoreactive or enzymatically active Cyp7a1 proteins are produced in homozygous mutants, but a novel "hybrid" mRNA present in heterozygous and homozygous animals is composed of sequences derived from the 5' and 3' ends of the mutated gene.Strain Development
Disruption of the murine Cyp7a1 gene was carried out in AB-1 embryonic stem cells (derived from the 129S5/SvEvBrd strain) which were injected into C57BL/6J blastocysts. A neomycin cassette replaces most of exon 3, and all of exons 4 and 5 of the gene.
Mammalian Phenotype Terms assigned by genotype |
| Allele Symbol | Cyp7a1tm1Rus | ||
|---|---|---|---|
| Allele Name | targeted mutation 1, David W Russell | ||
| Common Name(s) | CYP7A1-; Cyp7-; | ||
| Mutation Made By | David Russell, Univ of Texas Southwest Med Ctr Dallas | ||
| Strain of Origin | 129S7/SvEvBrd-Hprt1<+> | ||
| ES Cell Line Name | AB1 | ||
| ES Cell Line Strain | 129S7/SvEvBrd-Hprt1<+> | ||
| Gene Symbol and Name | Cyp7a1, cytochrome P450, family 7, subfamily a, polypeptide 1 | ||
| Chromosome | 4 | ||
| Gene Common Name(s) | CHAP; CP7A; CYP7; CYP7S1; MGC126826; MGC138389; cholesterol 7 alpha hydroxylase; | ||
| Molecular Note | A genomic fragment containing part of exon 3, exon 4 and exon 5 was replaced with a neomycin selection cassette. Activity assays on extracts of liver microsomal memebrane preparations derived from homozygous mice demonstrated that no functional protein is made from this allele. [J:34342] | ||
| Control | ||
|---|---|---|
| 101045 B6129SF2/J | (approximate) | |
| Considerations for Choosing Controls | ||
Cyp7a1tm1Rus
| Breeding & Husbandry | This strain requires a cholic acid dietary supplement. Cholic acid is mixed and fed with milled food at the concentration 1g cholic acid/100g milled food. A vitamin supplement may also be required. Mice from the B6129F2/J colony (Stock 101045) may be used as controls. The B6129F2/J mice only provide an approximate match to this B6,129 background. Expected coat color from breeding:Black |
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| Diet Information | LabDiet® 5K52/5K67 |
Cyp7a1tm1Rus related
Cardiovascular Research
Other (altered fat metabolism)
Metabolism Research
Selected Reference(s)
Additional ReferencesIshibashi S; Schwarz M; Frykman PK; Herz J; Russell DW. 1996. Disruption of cholesterol 7alpha-hydroxylase gene in mice. I. Postnatal lethality reversed by bile acid and vitamin supplementation. J Biol Chem 271(30):18017-23. [PubMed: 8663429] [J:34342]
| Strain Name: | B6;129S7-Cyp7a1tm1Rus/J |
| Stock Number: | 002751 |
IMPORTANT NOTE: Prices are based on shipping destination. To view prices, select your shipping destination.
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to the Supply Notes for further information. |
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| Supply Notes |
Cryorecovery - Standard. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. |
| Licensing | See General Terms and Conditions below |
| Control Information | View Control Information in Strain Details. |
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