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| Nomenclature |
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Symbol:
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Frem1tm1Ksek
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Name:
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Fras1 related extracellular matrix protein 1;
targeted mutation 1, Kiyotoshi Sekiguchi
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MGI ID: |
MGI:3665235 |
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Synonyms: |
Qbrick/Frem1- |
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Gene:
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Frem1
Location:
Chr4:82897927-83052339 bp, - strand
Genetic Position: Chr4,
39.4 cM
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Phenotypes and electron microscopy of Frem1tm1Ksek/Frem1tm1Ksek mice
Show the 1 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:111788
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Exon 2, which contains the initiation codon, was replaced with a neomycin resistance gene via homologous recombination. Immunohistochemistry confirms absence of protein at the basement membrane zone of skin. (J:111788)
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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 Frem1 Mutation:
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3 strains or lines available |
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| References |
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Original: |
J:111788
Kiyozumi D et al.,
"Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects."
Proc Natl Acad Sci U S A 2006 Aug 8;103(32):11981-6
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All: |
3 reference(s)
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Analysis Tools
