Allele/Variant

Atp7aMo-dp

Species
Mus musculus
Symbol
Atp7aMo-dp
Category
allele
Allele of gene
Atp7a
Transgenic Constructs
None
Synonyms
  • Modp
Description
Fine-mapping of the breakpoints and sequencing of the junction fragment indicate that the deletion begins at 103,220,541 bp and ends at 103,229,530 bp (NCBI37/mm9) and is 8990 bp, where 2074 bp are in the promoter, 104 bp in exon 1, and 6812 in intron 1. Western blot of heterozygous females confirmed decreased protein expression.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
Annotation details
Source
References
abnormal enzyme/coenzyme activity
MGI
abnormal limb bone morphology
MGI
abnormal pectoral girdle bone morphology
MGI
abnormal pelvic girdle bone morphology
MGI
abnormal rib morphology
MGI
abnormal skeleton morphology
MGI
aortic aneurysm
MGI
clubfoot
MGI
curly vibrissaeMGI
decreased brain copper level
MGI
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Disease Associations

Association
Disease Qualifier
Disease
Annotation details
Evidence
Source
References
is implicated inMenkes disease
  • TAS
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