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Atp7btx
Spontaneous Allele Detail
Nomenclature
Symbol: Atp7btx
Name: ATPase, Cu++ transporting, beta polypeptide; toxic milk
MGI ID: MGI:1856220
Synonyms: tx
Gene: Atp7b  Location: Chr8:21992785-22060305 bp, - strand  Genetic Position: Chr8, 10.78 cM
Mutation
origin
Strain of Origin:  DL
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsAn A-to-G transition point mutation at position 4066 of the coding sequence alters amino acid 1356 from methionine to valine in the encoded protein. This residue is predicted to lie within the eighth transmembrane domain and is highly conserved among copper transporting ATPases. (J:35781)
Inheritance:    Recessive
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 1 assay results
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:  3 strains or lines available
References
Original:  J:64103 Rauch H, tx - toxic milk. Mouse News Lett. 1977;56:48
All:  16 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
08/25/2015
MGI 6.0
The Jackson Laboratory