C3He-Atp7b^tx-J/J

Stock number: 001576
Product name: toxic milk Jackson
Research areas: Metabolism Research, Mouse/Human Gene Homologs

Description

These mice carry a spontaneous mutation at the Atp7b locus characterized by cirrhosis, copper deficiency, and early mortality.

Detailed description

Wilson disease (WD) is an autosomal recessive defect of copper transport characterized by massive accumulation of copper in the liver, which can lead to liver failure. Mutations in a copper transporting ATPase (WND or ATP7B) have been shown to cause the disease. The toxic milk mouse mutant (Atb7b ^tx) accumulates copper in the liver in a manner similar to that observed in patients with WD. The autosomal recessive mutation (Atp7b^tx-J) arose in 1987 in the C3H/HeJ animal resources colony at The Jackson Laboratory. As with the Atb7b ^tx mutant, adult homozygous Atp7b^tx-J mice develop cirrhosis, and infant mice are pale colored, copper deficient, and display early mortality unless fostered by wild-type dams. The mutation comprises a G to A base substitution at position 2135 in exon 8 of the gene. This strain should be particularly useful in the study of neurological diseases in which copper accumulation plays an active role in pathology, including Alzheimer's disease.

Development

Toxic milk Jackson (Atp7b^tx-J) arose spontaneously in strain C3H/HeJ in 1988. One outcross was made to C3HeB/FeJ and then sibling matings were used to maintain the stock. The stock is maintained in the homozygous condition with the use of foster mothers.

Allele

Symbol: Atp7b^tx-J
Name: toxic milk Jackson
MGI accession ID: MGI:1856221
Generation method: Spontaneous
Marker symbol: Atp7b
Marker name: ATPase, Cu++ transporting, beta polypeptide
Marker synonyms: Atp7a; Hts; PINA; PWD; WC1; WD; Wilson protein; WND
Chromosome: 8
Strain of origin: C3H/HeJ
Molecular note: 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.
General note: Tests at the University of Massachusetts proved its allelism to the original toxic milk mutation (J:28232).