|
|
| Nomenclature |
|
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
|
|
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 (knock-in) |
|
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 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)
|
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
| 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: |
5 reference(s)
|
|
Analysis Tools
