Efemp1tm1Eap
Targeted Allele Detail
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Symbol: |
Efemp1tm1Eap |
Name: |
epidermal growth factor-containing fibulin-like extracellular matrix protein 1; targeted mutation 1, Eric A Pierce |
MGI ID: |
MGI:3774265 |
Synonyms: |
Efemp1R345W |
Gene: |
Efemp1 Location: Chr11:28803204-28876743 bp, + strand Genetic Position: Chr11, 16.32 cM, cytoband A4
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Alliance: |
Efemp1tm1Eap page
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Germline Transmission: |
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: |
129S6/SvEvTac
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Allele Type: |
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Targeted (Humanized sequence) |
Mutations: |
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Insertion, Nucleotide substitutions
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Mutation details: A loxP site flanked neomycin resistance gene cassette was inserted into intron 8 and an exon 9 was modified to change arginine codon 345 (CGA) to tryptophan (TGG) (p.R345W). The neo cassette was removed through subsequent Cre-mediated recombination. The mutation is the equivalent of the same human mutation associated with age-related macular degeneration (AMD). 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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View phenotypes and curated references for all genotypes (concatenated display).
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Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available
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Carrying any Efemp1 Mutation: |
36 strains or lines available
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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 |
All: |
5 reference(s) |
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