Atp7a^tm1.2Mlke
Targeted Allele Detail

Summary

• Symbol: Atp7a^tm1.2Mlke
• Name: ATPase, copper transporting, alpha polypeptide; targeted mutation 1.2, Marina L Kennerson
• MGI ID: MGI:6393654
• Synonyms: Atp7a^T985I
• Gene: Atp7a Location: ChrX:105070882-105168532 bp, + strand Genetic Position: ChrX, 47.36 cM
• Alliance: Atp7a^tm1.2Mlke page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:266704
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A mini cDNA consisting of exon 15 with an ACG to ATC change resulting in a threonine to isoleucine substitution at amino acid 985 (T985I), a loxP site, an FRT-flanked PGK-neo, a terminating STOP codon, exons 15-23, and a loxP site replaced exon 15. The PGK-neo selection cassette was removed via Flp-mediated recombination. Cre-mediated recombination deleted the wild-type exons 15-23 and STOP codon, resulting in expression of the T985I mutant. The mouse T985I mutation corresponds to the T994I mutation in individuals with X-linked distal hereditary motor neuropathy. Real time qPCR shows normal levels of mRNA expression but Western blot shows decreased protein levels in the brain and spinal cord. (J:266704)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Atp7a Mutation: 69 strains or lines available

References

• Original: J:266704 Perez-Siles G, et al., Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX). Metallomics. 2016 Sep 1;8(9):981-92
• All: 1 reference(s)