Atp7b^tx-J
Spontaneous Allele Detail

Summary

• Symbol: Atp7b^tx-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: Atp7b^tx-J page

Mutation origin

• Strain of Origin: C3H/HeJ

Mutation description

• 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

Disease models

Expression

In Structures Affected by this Mutation:

5 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

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^J). Mouse News Lett. 1989;84:89
• All: 12 reference(s)