Cep290tm2.1Rwjc
Targeted Allele Detail
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Symbol: |
Cep290tm2.1Rwjc |
Name: |
centrosomal protein 290; targeted mutation 2.1, Robert WJ Collin |
MGI ID: |
MGI:5578357 |
Synonyms: |
Cep290lca |
Gene: |
Cep290 Location: Chr10:100323410-100409527 bp, + strand Genetic Position: Chr10, 51.48 cM
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Alliance: |
Cep290tm2.1Rwjc page
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Germline Transmission: |
Earliest citation of germline transmission:
J:209218
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Parent Cell Line: |
Not Specified (ES Cell)
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Strain of Origin: |
129S2/SvPas
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Allele Type: |
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Targeted (Humanized sequence, Inserted expressed sequence) |
Mutations: |
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Insertion, Intragenic deletion
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Cep290tm2.1Rwjc expresses
1 gene
Knock-in expresses:
Organism |
Expressed Gene |
Homolog in Mouse |
Note |
human |
CEP290 (80184) |
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Exons 25 and 26 of the mouse gene were replaced with the sequence for human exons 26 and 27 with the deep intronic Leber Congenital Amaurosis-causing mutation |
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Mutation details: Exons 25 and 26 were replaced with the sequence for human exon 26 and 27 with the deep intronic Leber Congenital Amaurosis-causing mutation (c.2991+1655AG). Cre-mediated recombination removed a floxed neomycin resistance cassette inserted downstream of human exon 27.
(J:209218)
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Generation of the Cep290tm1.1Rwjc and Cep290tm2.1Rwjc alleles |
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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 Cep290 Mutation: |
125 strains or lines available
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Original: |
J:209218 Garanto A, et al., Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis. PLoS One. 2013;8(11):e79369 |
All: |
1 reference(s) |
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