Primary Identifier | MGI:1856147 | Allele Type | Spontaneous |
Gene | Hps5 | Inheritance Mode | Recessive |
Strain of Origin | C57BL/6J | Is Recombinase | false |
Is Wild Type | false |
molecularNote | This spontaneous mutation was shown to be an allele of Hpsru-2 by complementation testing, and thus an allele of Hps5ru2. Subsequent sequence analysis identified the replacement of G with TT in codon 757, putatively resulting in a frameshift mutation that precludes the translation of 311 carboxy terminal amino acids. Northern blot analysis indicated that the mutation did not affect the expression pattern of the gene. |