Fam20c^tm1.1Cqi
Targeted Allele Detail

Summary

• Symbol: Fam20c^tm1.1Cqi
• Name: FAM20C, golgi associated secretory pathway kinase; targeted mutation 1.1, Chunlin Qin
• MGI ID: MGI:5428020
• Synonyms: Fam20c^flox
• Gene: Fam20c Location: Chr5:138740836-138795818 bp, + strand Genetic Position: Chr5, 77.19 cM
• Alliance: Fam20c^tm1.1Cqi page

Small size, flat face, hypomineralization, and distorted spine in Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi Edil3^{Tg(Sox2-cre)1Amc}/0 mice

Show the 6 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:185208
• Parent Cell Line: W4 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

Allele Type: Targeted (Conditional ready, No functional change) Mutation: Insertion Mutation details: A loxP site was inserted upstream of exon 6 and a loxP site and FRT flanked mcl-neo cassette were inserted downstream of exon 9 via homologous recombination. Flp mediated recombination removed the neo cassette leaving exons 6 - 9 floxed. (J:185208)

Generation of the Fam20c^tm1.1Cqi allele

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	19 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Fam20c Mutation: 26 strains or lines available

References

• Original: J:185208 Wang X, et al., Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice. PLoS Genet. 2012 May;8(5):e1002708
• All: 8 reference(s)