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Atp7btx-J
Spontaneous Allele Detail
Nomenclature
Symbol: Atp7btx-J
Name: ATPase, Cu++ transporting, beta polypeptide; toxic milk Jackson
MGI ID: MGI:1856221
Gene: Atp7b  Location: Chr8:21992785-22060305 bp, - strand  Genetic Position: Chr8, 10.78 cM
Mutation
origin
Strain of Origin:  C3H/HeJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThe mutation comprises a G to A base substitution at position 2135 in exon 8 of the gene. This is predicted to result in a Gly712Asp missense mutation in the second putative membrane-spanning domain of the encoded protein. (J:71896)
Inheritance:    Recessive
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: 6 anatomical structures
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:  44 strains or lines available
Notes
Tests at the University of Massachusetts proved its allelism to the original toxic milk mutation (J:28232).
References
Original:  J:28232 Sweet HO, et al., Toxic milk-J (tx). Mouse News Lett. 1989;84:89
All:  7 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