Primary Identifier | MGI:2388058 | Allele Type | Targeted |
Attribute String | Humanized sequence, Hypomorph, Inserted expressed sequence | Gene | Fgfr3 |
Transmission | Germline | Strain of Origin | 129S6/SvEvTac |
Is Recombinase | false | Is Wild Type | false |
molecularNote | A lysine to methionine substitution at residue 644 (K644M) was introduced into exon 10 of the gene along with a floxed neo cassette in intron 10. The mutation corresponds to K650M in humans (exon 15), which is associated with severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). |