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| Nomenclature |
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Symbol:
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Fam20ctm1.1Cqi
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Name:
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family with sequence similarity 20, member C;
targeted mutation 1.1, Chunlin Qin
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MGI ID: |
MGI:5428020 |
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Synonyms: |
Fam20cflox |
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Gene:
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Fam20c
Location:
Chr5:138754514-138810077 bp, + strand
Genetic Position: Chr5,
77.19 cM
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Small size, flat face, hypomineralization, and distorted spine in Fam20ctm1.1Cqi/Fam20ctm1.1Cqi Tg(Sox2-cre)1Amc/0 mice
Show the 6 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:185208
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Parent Cell Line:
| W4 (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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Mutation
description |
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Allele
Type: | |
Targeted (Floxed/Frt) |
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Mutation: | |
Insertion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Fam20c Mutation:
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1 strain or line available |
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Notes |
Phenotypic Similarity to Human Syndrome: Hypophosphatemic Rickets in homozygous mice carrying Tg(Sox2-cre)1Amc (J:185208)
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| References |
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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
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All: |
2 reference(s)
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Analysis Tools
