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| Nomenclature |
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Symbol:
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Atp7btm1Tcg
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Name:
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ATPase, Cu++ transporting, beta polypeptide;
targeted mutation 1, T Conrad Gilliam
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MGI ID: |
MGI:2158253 |
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Synonyms: |
Atp7b-, ATPB7- |
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Gene:
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Atp7b
Location:
Chr8:21992785-22060305 bp, - strand
Genetic Position: Chr8,
10.78 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:57632
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Parent Cell Line:
| W9.5/W95 (ES Cell) |
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Strain of Origin:
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129S1/Sv-Oca2+ Tyr+ Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Atp7b Mutation:
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3 strains or lines available |
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| References |
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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
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All: |
9 reference(s)
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Analysis Tools
