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

Symbol:	Atp7btx-J
Name:	ATPase, copper transporting, beta polypeptide; toxic milk Jackson
MGI ID:	MGI:1856221
Gene:	Atp7b  Location: Chr8:22482801-22550321 bp, - strand  Genetic Position: Chr8, 10.78 cM
Alliance:	Atp7btx-J page

Strain of Origin:

C3H/HeJ

Allele Type:    Spontaneous Mutation:    Single point mutation   Mutation details: The 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

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

In Structures Affected by this Mutation:

5 anatomical structure(s)

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

Original:	J:28232 Sweet HO, et al., Toxic milk-J (txJ). Mouse News Lett. 1989;84:89
All:	13 reference(s)