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Targeted Allele Detail
Symbol: Atp7btm1Tcg
Name: ATPase, Cu++ transporting, beta polypeptide; targeted mutation 1, T Conrad Gilliam
MGI ID: MGI:2158253
Synonyms: Atp7b-, ATPB7-
Gene: Atp7b  Location: Chr8:21992785-22060305 bp, - strand  Genetic Position: Chr8, 10.78 cM
Germline Transmission:  Earliest citation of germline transmission: J:57632
Parent Cell Line:  W9.5/W95 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA genomic fragment containing part of exon 2 was replaced with a neomycin selection cassette. RT-PCR analysis indicated that an abnormal transcript is made from this allele that splices exon 1 to exon 3. This abnormal splicing pattern is predicted to result in a frameshift mutation. Western blot analysis on brain extracts derived from homozygous mice demostrated that no stable full length protein is produced from this allele. (J:57632)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Atp7b Mutation:  44 strains or lines available
Original:  J:57632 Buiakova OI, et al., Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation. Hum Mol Genet. 1999 Sep;8(9):1665-71
All:  10 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 6.11
The Jackson Laboratory