Primary Identifier | MGI:4948351 | Allele Type | Chemically induced (ENU) |
Gene | Pkd1l1 | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
molecularNote | An A to T transition mutation at nucleotide 1232 in exon 8 results in a non-conservative substitution of glycine for aspartic acid at position 411. This mutation occurs in a highly conserved residue in the second PKD domain. In silico modeling predicts this mutation will disrupt the structure of the second PKD domain. |