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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Rhotm2.1Kpal
targeted mutation 2.1, Krzysztof Palczewski
MGI:5474849
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Rhotm2.1Kpal/Rhotm2.1Kpal involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac MGI:5474861
ht2
Rhotm2.1Kpal/Rho+ involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac MGI:5474860
cx3
Gnat1tm1Clma/Gnat1tm1Clma
Rhotm2.1Kpal/Rhotm2.1Kpal
involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * C57BL/6NTac MGI:5474863
cx4
Lrattm1Kpal/Lrattm1Kpal
Rhotm2.1Kpal/Rhotm2.1Kpal
involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac MGI:5474862


Genotype
MGI:5474861
hm1
Allelic
Composition
Rhotm2.1Kpal/Rhotm2.1Kpal
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rhotm2.1Kpal mutation (1 available); any Rho mutation (51 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Progressive retinal degeneration in heterozygous and homozygous Rhotm2.1Kpal mice

vision/eye
N
• mice exhibit normal phototransduction efficiency
• autofluorescent spots
• mice exhibit a slight increase in free opsin accumulation
• disordered photoreceptor disc structures that disrupt normal phagocytosis
• mislocalization of rhodopsin
• most photoreceptors disappear by 4 months
• with loosened and irregular shaped discs and inclusions
• at 2 months, especially in the outer nuclear layer
• most photoreceptors disappear by 4 months
• almost gone by 4 months
• in some regions
• near complete loss by 4 months
• attenuated by 2 months

nervous system
• Muller/macrophage/microglial cell activation in retinas
• disordered photoreceptor disc structures that disrupt normal phagocytosis
• mislocalization of rhodopsin
• most photoreceptors disappear by 4 months
• with loosened and irregular shaped discs and inclusions
• at 2 months, especially in the outer nuclear layer
• most photoreceptors disappear by 4 months

immune system
• Muller/macrophage/microglial cell activation in retinas

hematopoietic system
• Muller/macrophage/microglial cell activation in retinas




Genotype
MGI:5474860
ht2
Allelic
Composition
Rhotm2.1Kpal/Rho+
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rhotm2.1Kpal mutation (1 available); any Rho mutation (51 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Progressive retinal degeneration in heterozygous and homozygous Rhotm2.1Kpal mice

vision/eye
• intermediate phenotype
• nearly complete lost by 10 months
• intermediate phenotype
• gradual decline after 2 months
• gradual decline after 2 months

nervous system
• intermediate phenotype




Genotype
MGI:5474863
cx3
Allelic
Composition
Gnat1tm1Clma/Gnat1tm1Clma
Rhotm2.1Kpal/Rhotm2.1Kpal
Genetic
Background
involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnat1tm1Clma mutation (1 available); any Gnat1 mutation (20 available)
Rhotm2.1Kpal mutation (1 available); any Rho mutation (51 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Severe retinal degeneration in Rhotm2.1Kpal/Rhotm2.1Kpal Gnat1tm1Clma/Gnat1tm1Clma mice and less severe degeneration in Rhotm2.1Kpal/Rhotm2.1Kpal Lrattm1Kpal/Lrattm1Kpal mice

vision/eye
• more severe than in Rhotm2.1Kpal homozygotes
• more severe than in Rhotm2.1Kpal homozygotes

nervous system
• more severe than in Rhotm2.1Kpal homozygotes




Genotype
MGI:5474862
cx4
Allelic
Composition
Lrattm1Kpal/Lrattm1Kpal
Rhotm2.1Kpal/Rhotm2.1Kpal
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrattm1Kpal mutation (1 available); any Lrat mutation (26 available)
Rhotm2.1Kpal mutation (1 available); any Rho mutation (51 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Severe retinal degeneration in Rhotm2.1Kpal/Rhotm2.1Kpal Gnat1tm1Clma/Gnat1tm1Clma mice and less severe degeneration in Rhotm2.1Kpal/Rhotm2.1Kpal Lrattm1Kpal/Lrattm1Kpal mice

vision/eye
• less severe than in Rhotm2.1Kpal homozygotes
• less severe than in Rhotm2.1Kpal homozygotes

nervous system
• less severe than in Rhotm2.1Kpal homozygotes





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory