Cilk1^tm1.1Zfu
Targeted Allele Detail

Summary

• Symbol: Cilk1^tm1.1Zfu
• Name: ciliogenesis associated kinase 1; targeted mutation 1.1, Zheng Fu
• MGI ID: MGI:6759477
• Synonyms: Ick^R272Q
• Gene: Cilk1 Location: Chr9:78016474-78079389 bp, + strand Genetic Position: Chr9, 43.56 cM, cytoband E1
• Alliance: Cilk1^tm1.1Zfu page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:309653
• Parent Cell Line: PTL1 (ES Cell)
• Strain of Origin: (129S6/SvEvTac x C57BL/6J)F1

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: 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. (J:309653)

Disease models

Expression

In Structures Affected by this Mutation:

18 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Cilk1 Mutation: 52 strains or lines available

References

• Original: J:309653 Tong Y, et al., An essential role of intestinal cell kinase in lung development is linked to the perinatal lethality of human ECO syndrome. FEBS Lett. 2017 May;591(9):1247-1257
• All: 2 reference(s)