Atp8b1^tm1Nbf
Targeted Allele Detail

Summary

• Symbol: Atp8b1^tm1Nbf
• Name: ATPase, class I, type 8B, member 1; targeted mutation 1, Nelson B Freimer
• MGI ID: MGI:3043815
• Synonyms: Atp8b1^G308V
• Gene: Atp8b1 Location: Chr18:64662050-64794342 bp, - strand Genetic Position: Chr18, 37.49 cM
• Alliance: Atp8b1^tm1Nbf page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:89817
• Parent Cell Line: PC3 (ES Cell)
• Strain of Origin: 129S4/SvJae-Tg(Prm-cre)70Og

Mutation description

• Allele Type: Targeted (Humanized sequence, Null/knockout)
• Mutation: Insertion
• Mutation details: A G to T transversion at bp 923 in exon 10 resulting in the substitution of a valine for a glycine at amino acid 308 (G308V) was introduced via homologous recombination. Targeting took place in ES cells homozygous for the Tg(Prm-cre)70Og transgene, which expresses Cre recombinase in male germ cells. A floxed neo cassette inserted into intron 11 during homologous recombination in ES cells was subsequently excised by Cre-mediated recombination upon transmission from male chimeric mice. RT-PCR confirmed that RNA expression is normal however western blot analysis demonstrated that protein expression was absent in the liver and almost absent in the ileum. (J:89817)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Atp8b1 Mutation: 77 strains or lines available

References

• Original: J:89817 Pawlikowska L, et al., A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion. Hum Mol Genet. 2004 Apr 15;13(8):881-92
• All: 14 reference(s)