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Rhotm1.1Eye
Targeted Allele Detail
Nomenclature
Symbol: Rhotm1.1Eye
Name: rhodopsin; targeted mutation 1.1, Stephen H Tsang
MGI ID: MGI:5566834
Synonyms: RhoD190N
Gene: Rho  Location: Chr6:115931748-115940036 bp, + strand  Genetic Position: Chr6, 53.72 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:205477
Parent Cell Line:  KV1 (ES Cell)
Strain of Origin:  (C57BL/6J x 129S6/SvEvTac)F1
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
 
Mutation detailsA G to A point mutation, converting the 190th amino acid of Rho from aspartic acid (D) to asparagine (N), was introduced using the GalK pop-in/pop-out recombineering method on RP24-288F10 BAC from BACPAC Resource. A loxP-Neo-loxp cassette that was inserted in the intron downstream of the exon carrying the D190N mutation was removed via cre-mediated recombination. (J:205477)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
Find Mice (IMSR)
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
Carrying any Rho Mutation:  13 strains or lines available
References
Original:  J:205477 Sancho-Pelluz J, et al., Mice with a D190N mutation in the gene encoding rhodopsin: a model for human autosomal-dominant retinitis pigmentosa. Mol Med. 2012;18:549-55
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
03/31/2020
MGI 6.15
The Jackson Laboratory