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Cngb3cpfl10
Spontaneous Allele Detail
Nomenclature
Symbol: Cngb3cpfl10
Name: cyclic nucleotide gated channel beta 3; cone photoreceptor function loss 10
MGI ID: MGI:6274478
Gene: Cngb3  Location: Chr4:19280850-19510623 bp, + strand  Genetic Position: Chr4, 7.42 cM, cytoband A3
Mutation
origin
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Spontaneous (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsA spontaneous point mutation of G-to-A in exon 6 creates a missense mutation of arginine to histidine at position 231 (p.R231H). (J:269211)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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 Cngb3 Mutation:  26 strains or lines available
References
Original:  J:269211 Hassall MM, et al., A Novel Achromatopsia Mouse Model Resulting From a Naturally Occurring Missense Change in Cngb3. Invest Ophthalmol Vis Sci. 2018 Dec 3;59(15):6102-6110
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
02/16/2021
MGI 6.16
The Jackson Laboratory