Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com.

doi:10.1038/10350

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Article

Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com.

Nature genetics - 1 Jul 1999

Derry J M, Gormally E, Means G D, Zhao W, Meindl A, Kelley R I, Boyd Y, Herman G E

Abstract excerpt

Tattered (Td) is an X-linked, semi-dominant mouse mutation associated with prenatal male lethality. Heterozygous females are small and at 4-5 days of age develop patches of hyperkeratotic skin where no hair grows, resulting in a striping of the coat in adults. Craniofacial anomalies and twisted toes have also been observed in some affected females. A potential second allele of Td has also been described. The...

Topics

Amino Acid Sequence
Animals
Base Sequence
Carrier Proteins
Chondrodysplasia Punctata
DNA Primers
Female
Genes, Dominant
Genetic Linkage
Guinea Pigs
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Mice

Mice, Mutant Strains

Molecular Sequence Data

Mutation

Phenotype

Pregnancy

Source

Open in PubMed

Identifiers

PMID: 10391218
DOI: 10.1038/10350

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