Primary Identifier | MGI:1856931 | Allele Type | Spontaneous |
Attribute String | Null/knockout | Gene | Hps4 |
Inheritance Mode | Recessive | Strain of Origin | C3H/HeJ |
Is Recombinase | false | Is Wild Type | false |
molecularNote | The underlying mutation responsible for the phenotype in the light ear mouse was identified as a C-to-T substitution that resulted in a nonsense mutation at glutamine codon 50 (p.Q50*). The absence of protein in homozygous mutant animals was demonstrated through immunoblot analysis. |