International Mammalian Genome Society

The 13th International Mouse Genome Conference
October 31-November 3, 1999

Table of Contents * Structure * Bioinformatics * Sequence * Mapping * New Tools * Gene Discovery * Developmental * Mutagenesis * Functional Genomics

F56 A Deletion Found in the Copper-Transporting P-Type ATPase Gene in the Pewter Mutation

Jingfang Niu1, Frank A. Verley1, Susan Dagenais2, and Tom Glover2. 1Department of Biology, Northern Michigan University, Marquette, MI; 2Department of Human Genetics, University of Michigan, Ann Arbor, MI

Mottled (Mo) 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 involved in copper transport. There are at least nine Mo mouse mutants each having varying degrees of phenotypic effect, from death at the end of gestation to lack of coat pigment. Pewter (Atp7aMo-pew) mice have the mildest phenotypic effect with only coat color being affected. We have identified a mutation in the Atp7a locus of mottled pewter 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 several exon probes derived from a murine Atp7a cDNA. We identified an EcoR1 polymorphism at the Atp7a locus in Atp7aMo-pew with a probe specific for exons 20 and 21 of Atp7a. This RFLP was co-inherited in three generation pedigrees only in Atp7aMo-pew. DNA sequence analysis of subclones revealed a 197 bp deletion in intron 20 of Atp7aMo-pew when compared with control wild-type. Sequence analysis of intron 20 revealed the deleted sequence to be a repeat element (type of repeat to be determined). Whether this intronic deletion is involved in manifesting this minor phenotype has yet to be determined. PCR of this STS provides a quick method to identify the Atp7aMo-pew allele.

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


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