Primary Identifier | MGI:2156990 | Allele Type | Spontaneous |
Attribute String | Null/knockout | Gene | Abcg5 |
Inheritance Mode | Recessive | Strain of Origin | A/J |
Is Recombinase | false | Is Wild Type | false |
molecularNote | Sequencing of the cDNA revealed a G-to-A mutation in exon 10 of the gene, which alters a tryptophan codon 462 (UGG) to a premature stop codon (UAG) (p.W462*). The premature stop codon is predicted to result the expression of a mutant protein that lacks the last 4 transmembrane domains. |