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| Nomenclature |
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Symbol:
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Evctm1Jago
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Name:
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Ellis van Creveld gene syndrome;
targeted mutation 1, Judith A Goodship
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MGI ID: |
MGI:3721399 |
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Gene:
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Evc
Location:
Chr5:37289098-37336894 bp, - strand
Genetic Position: Chr5,
20.06 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:124105
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Parent Cell Line:
| AB1 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprt+
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Mutation
description |
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Allele
Type: | |
Targeted (Reporter) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: The first exon was replaced by a beta-galactosidase gene. LacZ recapitulates endogenous expression. No RNA or protein was detected by RT-PCR and immunofluorescent staining of the developing bones of homozygous mice. Expression of two proximal genes, Crmp1 and Evc2, were not affected. (J:124105)
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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 Evc Mutation:
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3 strains or lines available |
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| References |
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Original: |
J:124105
Ruiz-Perez VL et al.,
"Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia."
Development 2007 Aug;134(16):2903-12
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All: |
4 reference(s)
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Analysis Tools
