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Fam20ctm1.1Cqi
Targeted Allele Detail
Summary
Symbol: Fam20ctm1.1Cqi
Name: FAM20C, golgi associated secretory pathway kinase; targeted mutation 1.1, Chunlin Qin
MGI ID: MGI:5428020
Synonyms: Fam20cflox
Gene: Fam20c  Location: Chr5:138740836-138795818 bp, + strand  Genetic Position: Chr5, 77.19 cM
Alliance: Fam20ctm1.1Cqi page
Small size, flat face, hypomineralization, and distorted spine in Fam20ctm1.1Cqi/Fam20ctm1.1Cqi Edil3Tg(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 detailsA 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 Fam20ctm1.1Cqi allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 20 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory