RGD Reference Report - Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. - Rat Genome Database

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Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.

Authors: Das, S  Levinson, B  Vulpe, C  Whitney, S  Gitschier, J  Packman, S 
Citation: Das S, etal., Am J Hum Genet. 1995 Mar;56(3):570-6.
RGD ID: 11340205
Pubmed: PMID:7887410   (View Abstract at PubMed)
PMCID: PMC1801180   (View Article at PubMed Central)

The connective-tissue disorder occipital horn syndrome (OHS) is hypothesized to be allelic to Menkes disease. The two diseases have different clinical presentations but have a similar abnormality of copper transport. Mice hemizygous for the blotchy allele of the X-linked mottled locus have similar connective-tissue defects as OHS and may represent a mouse model of this disease. We have analyzed the Menkes/mottled copper-transporting ATPase in these two potentially homologous disorders and have identified similar splicing mutations in both. Some expression of normal mRNA was detectable by reverse transcription-PCR in the mutant tissues. These findings contrast with the more debilitating mutations observed in Menkes disease and suggest that low amounts of an otherwise normal protein product could result in the relatively mild phenotype of OHS and of the blotchy mouse.




  
Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
ATP7AHumanoccipital horn syndrome  ISORGD:10215DNA:snp:intron:c.2553+3A>C (mouse)RGD 
Atp7aRatoccipital horn syndrome  ISORGD:10215DNA:snp:intron:c.2553+3A>C (mouse)RGD 
Atp7aMouseoccipital horn syndrome  IAGP DNA:snp:intron:c.2553+3A>C (mouse)RGD 


Genes (Rattus norvegicus)
Atp7a  (ATPase copper transporting alpha)

Genes (Mus musculus)
Atp7a  (ATPase, copper transporting, alpha polypeptide)

Genes (Homo sapiens)
ATP7A  (ATPase copper transporting alpha)