Allele/Variant

Cilk1tm1.1Zfu

Species
Mus musculus
Symbol
Cilk1tm1.1Zfu
Category
allele
Allele of gene
Cilk1
Transgenic Constructs
None
Synonyms
  • IckR272Q
Description
A CGA to CAA point mutation resulting in an arginine to glutamine substitution at residue 272 (R272Q) was introduced into exon 8. A loxP-flanked neomycin selection cassette was inserted in the intron downstream of exon 8 and was removed via cre-mediated recombination. The R272Q loss-of-function mutation has been identified as the causative mutation for endocrine-cerebro-osteodysplasia syndrome in humans.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations