Atp7b<tm1Tcg> Targeted Allele Detail MGI Mouse (MGI:2158253)

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Atp7b^tm1Tcg
Targeted Allele Detail

Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

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)

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

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)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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