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Allele : Tmem135<fun025> transmembrane protein 135; fundus mutant 025

Primary Identifier  MGI:5811600 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Tmem135
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
molecularNote  This ENU-induced mutation was isolated in a screen for recessive vison phenotypes at Northwestern University Center for Functional Genomics. A point mutation, T>C, in the splice-donor site adjacent to exon 12 was identified, disrupting the splice donor site and resulting in skipping of exon 12 and a frame shift creating an early stop codon. The c-terminal region is shorter due to the stop codon and this mutation is predicted to abolish the 4th and 5th transmembrane helices and reverse the orientation of the remaining 3 transmembrane helices.
  • mutations:
  • Single point mutation
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

8 Publication categories