Literature DB >> 15607429

The open-eyelid mutation, lidgap-Gates, is an eight-exon deletion in the mouse Map3k1 gene.

Diana M Juriloff1, Muriel J Harris, Diana G Mah.   

Abstract

The BALB/cGa mouse strain and its descendants, now called the SELH/Bc strain, have produced two waves of high frequency of spontaneous heritable mutations. One of these, the recessive lidgap-Gates (lg(Ga)) mutation, causes the same open-eyelids-at-birth phenotype as the gene knockout mutations of Map3k1 and co-maps to distal Chr 13. The lg(Ga) mutation is demonstrated to be a 27.5-kb deletion of exons 2-9 in the Map3k1 gene, the first spontaneous mutant allele described at this locus. The lg(Ga) mutation is consistent with a pattern suggesting that the waves of mutation in BALB/cGa and its descendants tend to be large deletions or ETn insertions, whose elevated rate of occurrence is due to an unknown mechanism.

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Year:  2005        PMID: 15607429     DOI: 10.1016/j.ygeno.2004.10.002

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  2 in total

1.  Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.

Authors:  Alexander Pearlman; Johnny Loke; Cedric Le Caignec; Stefan White; Lisa Chin; Andrew Friedman; Nicholas Warr; John Willan; David Brauer; Charles Farmer; Eric Brooks; Carole Oddoux; Bridget Riley; Shahin Shajahan; Giovanna Camerino; Tessa Homfray; Andrew H Crosby; Jenny Couper; Albert David; Andy Greenfield; Andrew Sinclair; Harry Ostrer
Journal:  Am J Hum Genet       Date:  2010-12-10       Impact factor: 11.025

Review 2.  Genetic Control of MAP3K1 in Eye Development and Sex Differentiation.

Authors:  Jingjing Wang; Eiki Kimura; Maureen Mongan; Ying Xia
Journal:  Cells       Date:  2021-12-23       Impact factor: 6.600

  2 in total

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