Tmem98^Rwhs
Chemically induced Allele Detail

Summary

• Symbol: Tmem98^Rwhs
• Name: transmembrane protein 98; retinal white spots
• MGI ID: MGI:2178433
• Synonyms: Gena246, GENA 246, Tmem98^I135T
• Gene: Tmem98 Location: Chr11:80701192-80712859 bp, + strand Genetic Position: Chr11, Syntenic
• Alliance: Tmem98^Rwhs page

Mutation origin

• Strain of Origin: (C3H/HeN x BALB/cAnN)F1
• Project Collection: Harwell ENU Mutagenesis

Mutation description

• Allele Type: Chemically induced (ENU) (Not Applicable)
• Mutation: Single point mutation
• Mutation details: 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. (J:277123)

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Tmem98 Mutation: 25 strains or lines available

Notes

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.

References

• Original: J:75964 Thaung C, et al., Novel ENU-induced eye mutations in the mouse: models for human eye disease. Hum Mol Genet. 2002 Apr 1;11(7):755-67
• All: 3 reference(s)