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Rhotm2.1Kpal
Targeted Allele Detail
Nomenclature
Symbol: Rhotm2.1Kpal
Name: rhodopsin; targeted mutation 2.1, Krzysztof Palczewski
MGI ID: MGI:5474849
Synonyms: RhoE150K
Gene: Rho  Location: Chr6:115908709-115916997 bp, + strand  Genetic Position: Chr6, 53.72 cM
Progressive retinal degeneration in heterozygous and homozygous Rhotm2.1Kpal mice

Show the 5 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:194158
Parent Cell Line:  iTL BA1 (ES Cell)
Strain of Origin:  (C57BL/6NTac x 129S6/SvEvTac)F1
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
 
Mutation detailsExon 2 was replaced with a floxed neo cassette and a modified exon 2 in which a G to A transition results in the amino acid substitution of lysine for glutamic acid (E150K). Cre-mediated recombination removed the neo cassette. (J:194158)
Targeting strategy for the generation of Rhotm2.1Kpal allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 4 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:  37 strains or lines available
References
Original:  J:194158 Zhang N, et al., Autosomal recessive retinitis pigmentosa E150K opsin mice exhibit photoreceptor disorganization. J Clin Invest. 2013 Jan 2;123(1):121-37
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
05/17/2022
MGI 6.19
The Jackson Laboratory