NDLI: Mouse Td ho abnormality results from double point mutations of the emopamil binding protein gene (Ebp)

Content Provider	Springer Nature Link
Author	Seo, Kwang Won Kelley, Richard I. Oka, Shinya Watanabe, Tomomasa
Copyright Year	2001
Abstract	Mouse Td ho (Tattered-Hokkaido) was described as being allelic with Td in our previous study. Both allelic genes, which are located at the same position on the centromere of the X Chromosome (Chr), generate similar phenotypes such as male embryonic lethality, and in heterozygous females, hyperkeratotic skin, skeletal abnormalities, and growth retardation. The emopamil binding protein gene (Ebp) emerged as a candidate for mouse Td ho mutation, since the Td gene was recently determined to result from a point mutation of Ebp. In this study, Ebp cDNA of Td ho was demonstrated to possess double point mutations that cause two amino acid changes from Leu to Pro at position 132 and from Ser to Cys at 133 in EBP protein. EBP participates in cholesterol biosynthesis, and cholest-8(9)-en-3β-ol was found to be increased in the plasma of Td ho adult females but not in that of normal mice. From these results, a loss of function was expected for the EBP protein encoded by Td ho . Both the phenotypes and genes responsible for Td ho as well as Td are quite similar to those of human X-linked chondrodysplasia punctata (CDPX2).
Starting Page	602
Ending Page	605
Page Count	4
File Format	PDF
ISSN	09388990
Journal	Mammalian Genome
Volume Number	12
Issue Number	8
e-ISSN	14321777
Language	English
Publisher	Springer-Verlag
Publisher Date	2014-02-18
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Cell Biology Anatomy Zoology
Content Type	Text
Resource Type	Article
Subject	Genetics

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Mapping of Ppp5c, the gene encoding protein phosphatase 5, to mouse Chromosome 7

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Mouse Td ho abnormality results from double point mutations of the emopamil binding protein gene (Ebp)

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Mouse Td ho abnormality results from double point mutations of the emopamil binding protein gene (Ebp)