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Allele : Fgfr3<tm1Iwa> fibroblast growth factor receptor 3; targeted mutation 1, Tomoko Iwata

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).
  • mutations:
  • Insertion
  • synonyms:
  • Fgf3<K644Mneo>,
  • Fgf3<K644Mneo>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

7 Publication categories