International Mammalian Genome Society

The 14th International Mouse Genome Conference (2000)

B23. A RFLP in the Genomic DNA of the Murine Atp7a Gene in the Tortoiseshell Allele

Jingfang Niu1, Frank A. Verley1, Laura LaFave1 and Lara Davis1
Department of Biology, Northern Michigan University, Marquette, MI

Atp7a mice are animal models for an X-linked recessive copper deficiency disorder in humans known as Menkes disease. This disorder in human and mouse is the result of mutation(s) in the P-type ATPase Atp7a, which is involved in copper transport. There are at least nine Atp7a mutants each having varying degrees of phenotypic effect, from death during gestation to lack of coat pigment. Tortoiseshell (Atp7aMo-to) mice have the severe phenotypic effect with in utero lethality of the hemizygous. Before this study, there was no method to identify Atp7a Mo-to allele at genomic level. We have identified a mutation in the Atp7a locus of mottled tortoiseshell at the genomic level. Genomic DNA of seven independent Mo allelic mice (Atp7aMo-to, Atp7aMo-br, Atp7aMo-vbr, Atp7aMo-dp, Atp7aMo-pew, Atp7aMo-blo and Atp7aMo-unk ) were studied by RFLP analysis using a murine Atp7a cDNA (MB2) and several exon probes derived from it.  We identified an EcoR1 polymorphism at the Atp7a locus in Atp7aMo-to with a partial murine Atp7a cDNA probe, MB2 and further located it within exon 18 and 19. This RFLP was co-inherited in three generation pedigrees only in Atp7aMo-to. We interpret this RFLP to be an addition according to RFLP analysis using several exon probes derived from MB2. This RFLP provides a method to identify the Atp7aMo-to allele in utero.

Keywords: Atp7a gene, Menkes, EcoR1, Mottled, Tortoise, restriction fragment length polymorphism (RFLP), PCR (Polymerase chain reaction).

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