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Atp7btm1Tcg
Targeted Allele Detail
Nomenclature
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
Mutation
origin
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+
Mutation
description
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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
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
References
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory