Name: targeted mutation 1, Nelson B Freimer
Alteration at locus: Knock-In
Name: ATPase, class I, type 8B, member 1
Alteration at locus: Knock-In
ES Cell Line:
Homozygous: Enlarged livers, elevated serum bile salt, decreased fertility, slower pup growth; upon dietary challenge with bile-salt-supplemented diet, more severe phenotypes, including weight loss, elevated serum bile salts and alkaline phosphatase, and low serum cholesterol.
Heterozygous: No obvious abnormal phenotypes detected.
Strain of Origin: 129S4
Strain genetic background: C57BL/6J
Strain Development: The original mutation was introduced using gene targeting in mouse ES cellsand achieved germ-line transmission of the Atp8b1G923Tneo allele (129S4/SvJae x C57BL/6J)F1 and backcrossed to C57BL/6J. The mutation was maintained by continual backcrossing to C57BL/6J until 22 generations of backcrossing were achieved. Now the current strain is maintained with intercrossing. The phenotypes reported were observed in the N1-N21 generations.
Suggested Control Mice:
Donor: Laura Bull, Ph.D., University of California, San Francisco
Shah S, Sanford UR, Vargas JC, Xu H, Groen A, Paulusma CC, Grenert JP, Pawlikowska L, Sen S, Elferink RP, Bull LN. Strain Background Modifies Phenotypes in the ATP8B1-Deficient Mouse. (2010) PLoS ONE 5(2): e8984. (Medline PMID: 20126555).
Pawlikowska L, Groen AK, Eppens EF, Kunne C, Ottenhoff R, Looije N, Knisely AS, Killeen NP, Bull LN, Elferink RP. A mouse genetic model for familial cholestasis caused by ATP8B1 mutatons reveals perturbed bile salt homeostasis but no impairment in bile secretion. Hum Mol Genet 15: 881–892.
Groen A, Kunne C, Jongsma G, van den Oever K, Mok KS, Petruzzelli M, Vrins CL, Bull L, Paulusma CC, Oude Elferink RP. Abcg5/8 independent biliary cholesterol excretion in Atp8b1-deficient mice.Gastroenterology. 2008 Jun;134(7):2091-100. Epub 2008 Mar 8.Abcg5/8 independent biliary cholesterol excretion in Atp8b1-deficient mice. (Medline PMID: 18466903).
Coat color: Brown
MMRRC Breeding System: Backcross or Intrastrain mating
Overall Breeding Performance: Good
|Viability and Fertility:||Female||Male||Comments|
|Homozygotes are viable:||Yes||Yes|
|Homozygotes are fertile:||Yes||Yes|
|Heterozygotes are fertile:||Yes||Yes|
|Age Reproductive Decline:||Unknown||Unknown|
Average litter size: Unknown
Recommended wean age: Unknown
Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.
Fee/unit (US $)
|Litter||Recovered litter1; additional fees for any special requests.|
|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). 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.