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Targeted Allele Detail
Symbol: Atp8b1tm1Nbf
Name: ATPase, class I, type 8B, member 1; targeted mutation 1, Nelson B Freimer
MGI ID: MGI:3043815
Synonyms: Atp8b1G308V
Gene: Atp8b1  Location: Chr18:64528979-64661000 bp, - strand  Genetic Position: Chr18, 37.49 cM
Germline Transmission:  Earliest citation of germline transmission: J:89817
Parent Cell Line:  PC3 (ES Cell)
Strain of Origin:  129S4/SvJae-Tg(Prm-cre)70Og
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence, Null/knockout)
Mutation:    Insertion
Mutation detailsA 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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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:  31 strains or lines available
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:  6 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.03
The Jackson Laboratory