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| Nomenclature |
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Symbol:
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Efemp1tm1Eap
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Name:
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epidermal growth factor-containing fibulin-like extracellular matrix protein 1;
targeted mutation 1, Eric A Pierce
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MGI ID: |
MGI:3774265 |
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Synonyms: |
Efemp1R345W |
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Gene:
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Efemp1
Location:
Chr11:28853204-28926743 bp, + strand
Genetic Position: Chr11,
16.32 cM, cytoband A4
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:129901
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Parent Cell Line:
| Not Specified (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 (knock-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: A floxed neo cassette was inserted between exon 8 and an exon 9 containing a nucleotide substitution that results in the amino acid substitution of a tryptophan for an arginine at position 345 (R345W). The neo cassette was removed by cre-mediated recombination. mRNA is expressed at levels equal to wild-type and protein levels in the eyes are similar to wild-type. (J:129901)
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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 Efemp1 Mutation:
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5 strains or lines available |
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| References |
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Original: |
J:129901
Fu L et al.,
"The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice."
Hum Mol Genet 2007 Oct 15;16(20):3411-22
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All: |
1 reference(s)
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Analysis Tools
