Atp7b^tm1Tcg
Targeted Allele Detail

Summary

• Symbol: Atp7b^tm1Tcg
• Name: ATPase, copper transporting, beta polypeptide; targeted mutation 1, T Conrad Gilliam
• MGI ID: MGI:2158253
• Synonyms: Atp7b-, ATPB7-
• Gene: Atp7b Location: Chr8:22482801-22550321 bp, - strand Genetic Position: Chr8, 10.78 cM
• Alliance: Atp7b^tm1Tcg page

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 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)

Disease models

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Atp7b Mutation: 82 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: 18 reference(s)