Primary Identifier | MGI:1857091 | Allele Type | Spontaneous |
Gene | Vps54 | Inheritance Mode | Recessive |
Strain of Origin | C57BL/Fa | Is Recombinase | false |
Is Wild Type | false |
molecularNote | A T-to-A transversion occurs in the second position of codon 967 in exon 23. This results in a leucine to glutamine amino acid substitution at position 967 (p.L967Q). Gene splicing is not affected by this mutation. All three normal transcripts are detected. |