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Allele : Tmem98<Rwhs> transmembrane protein 98; retinal white spots

Primary Identifier  MGI:2178433 Allele Type  Chemically induced (ENU)
Gene  Tmem98 Strain of Origin  (C3H/HeN x BALB/cAnN)F1
Is Recombinase  false Is Wild Type  false
Project Collection  Harwell ENU Mutagenesis
description 

The Rwhs phenotype may not be fully penetrant and/or can be late onset, as 4 out of 22 mice were genotyped as carriers but did not exhibit a phenotype.

molecularNote  This phenotypic mutant was identified in an ENU mutagenesis screen. The molecular lesion is a T to C substitution in exon 5 of the gene (position 11:80,817,609 (GRCm38/mm10) Assembly). This mutation leads to the substitution of the nonpolar aliphatic amino acid, isoleucine, by the polar amino acid threonine (p.I135T) in the encoded protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • Tmem98<I135T>,
  • Gena246,
  • GENA 246,
  • Gena246,
  • Tmem98<I135T>,
  • GENA 246
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

5 Publication categories