Primary Identifier | MGI:7568836 | Allele Type | Spontaneous |
Attribute String | Modified isoform(s) | Gene | Pkhd1 |
Inheritance Mode | Recessive | Strain of Origin | D2.B6Ei-(D4Mit42-D4Smh6b)/11Ei |
Is Recombinase | false | Is Wild Type | false |
molecularNote | This spontaneous mutation in exon 48 has a GG deletion at c.7588_7589 and an insertion of one T, which leads to altered amino acid sequence followed by a premature termination codon 44 basepair downstream |