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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
vision/eye phenotype ( J:194158 )
N
• mice exhibit normal phototransduction efficiency
abnormal ocular fundus morphology ( J:194158 )
• autofluorescent spots
abnormal retina morphology ( J:194158 )
• mice exhibit a slight increase in free opsin accumulation
abnormal retina photoreceptor morphology ( J:194158 )
• disordered photoreceptor disc structures that disrupt normal phagocytosis
• mislocalization of rhodopsin
decreased retina photoreceptor cell number ( J:194158 )
• most photoreceptors disappear by 4 months
disorganized photoreceptor outer segment ( J:194158 )
• with loosened and irregular shaped discs and inclusions
retina photoreceptor degeneration ( J:194158 )
• at 2 months, especially in the outer nuclear layer
• most photoreceptors disappear by 4 months
thin retina outer nuclear layer ( J:194158 )
• almost gone by 4 months
retina detachment ( J:194158 )
• in some regions
abnormal cone electrophysiology ( J:194158 )
• near complete loss by 4 months
abnormal rod electrophysiology ( J:194158 )
• attenuated by 2 months

nervous system
microgliosis ( J:194158 )
• Muller/macrophage/microglial cell activation in retinas
abnormal retina photoreceptor morphology ( J:194158 )
• disordered photoreceptor disc structures that disrupt normal phagocytosis
• mislocalization of rhodopsin
decreased retina photoreceptor cell number ( J:194158 )
• most photoreceptors disappear by 4 months
disorganized photoreceptor outer segment ( J:194158 )
• with loosened and irregular shaped discs and inclusions
retina photoreceptor degeneration ( J:194158 )
• at 2 months, especially in the outer nuclear layer
• most photoreceptors disappear by 4 months

immune system
microgliosis ( J:194158 )
• Muller/macrophage/microglial cell activation in retinas

hematopoietic system
microgliosis ( J:194158 )
• 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
retina photoreceptor degeneration ( J:194158 )
• intermediate phenotype
thin retina outer nuclear layer ( J:194158 )
• intermediate phenotype
• nearly complete lost by 10 months
abnormal cone electrophysiology ( J:194158 )
• gradual decline after 2 months
abnormal rod electrophysiology ( J:194158 )
• gradual decline after 2 months

nervous system
retina photoreceptor degeneration ( J:194158 )
• 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
retina photoreceptor degeneration ( J:194158 )
• more severe than in Rhotm2.1Kpal homozygotes
thin retina outer nuclear layer ( J:194158 )
• more severe than in Rhotm2.1Kpal homozygotes

nervous system
retina photoreceptor degeneration ( J:194158 )
• 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
retina photoreceptor degeneration ( J:194158 )
• less severe than in Rhotm2.1Kpal homozygotes
thin retina outer nuclear layer ( J:194158 )
• less severe than in Rhotm2.1Kpal homozygotes

nervous system
retina photoreceptor degeneration ( J:194158 )
• less severe than in Rhotm2.1Kpal homozygotes




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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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Send questions and comments to User Support. 		last database update
10/22/2024
MGI 6.24 		The Jackson Laboratory