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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Lrattm1Kpal
targeted mutation 1, Krzysztof Palczewski
MGI:3038935
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Lrattm1Kpal/Lrattm1Kpal involves: 129S6/SvEvTac MGI:3039274
ht2
Lrattm1Kpal/Lrat+ involves: 129S6/SvEvTac MGI:3039275
cx3
Lrattm1Kpal/Lrattm1Kpal
Rhotm1.1Kpal/Rho+
Rpe65450L/Rpe65450M
involves: 129S6/SvEvTac * C57BL/6 * FVB/N MGI:4947236
cx4
Lrattm1Kpal/Lrattm1Kpal
Rhotm2.1Kpal/Rhotm2.1Kpal
involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac MGI:5474862


Genotype
MGI:3039274
hm1
Allelic
Composition
Lrattm1Kpal/Lrattm1Kpal
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrattm1Kpal mutation (1 available); any Lrat mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• after 8 weeks of dark-rearing, rod pigment isorhodopsin levels are decreased compared to homozygous Rpe65tm1Tmr mice
• M/L-opsin is mislocalized to the cone cell inner segment, perinuclear region, axon, and synaptic pedicle
• 11-cis retinal treatment corrects cone opsin mislocalization
• rod outer segments decrease in length
• cone outer segment disintegration is advanced in the P28 retina
• rapid degeneration of cone photoreceptors, with M/L-opsin completely absent at P28 and S-opsin totally absent at P42
• slow rod photoreceptor degeneration

nervous system
• after 8 weeks of dark-rearing, rod pigment isorhodopsin levels are decreased compared to homozygous Rpe65tm1Tmr mice
• M/L-opsin is mislocalized to the cone cell inner segment, perinuclear region, axon, and synaptic pedicle
• 11-cis retinal treatment corrects cone opsin mislocalization
• rod outer segments decrease in length
• cone outer segment disintegration is advanced in the P28 retina
• rapid degeneration of cone photoreceptors, with M/L-opsin completely absent at P28 and S-opsin totally absent at P42
• slow rod photoreceptor degeneration

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Leber congenital amaurosis 14 DOID:0110188 OMIM:613341
J:136882




Genotype
MGI:3039275
ht2
Allelic
Composition
Lrattm1Kpal/Lrat+
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrattm1Kpal mutation (1 available); any Lrat mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• mildly affected kinetics of retinoid flow with transient accumulation of all-trans-retinyl esters and all-trans-retinol

vision/eye
N
• normal retina histology, and ERG and pupillary responses




Genotype
MGI:4947236
cx3
Allelic
Composition
Lrattm1Kpal/Lrattm1Kpal
Rhotm1.1Kpal/Rho+
Rpe65450L/Rpe65450M
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrattm1Kpal mutation (1 available); any Lrat mutation (19 available)
Rhotm1.1Kpal mutation (1 available); any Rho mutation (38 available)
Rpe65450L mutation (0 available); any Rpe65 mutation (32 available)
Rpe65450M mutation (0 available); any Rpe65 mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Effect of genetic depletion of 11-cis-retinal production (Lrattm1Kpal/Lrattm1Kpal) on retinal degeneration in Rhotm1.1Kpal/Rho+ mice

vision/eye
• dramatically reduced at P36
• less than in Rhotm1.1Kpal heterozygotes
• due to increased apoptosis
• less than in Rhotm1.1Kpal heterozygotes

nervous system
• dramatically reduced at P36
• less than in Rhotm1.1Kpal heterozygotes
• due to increased apoptosis
• less than in Rhotm1.1Kpal heterozygotes




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 (19 available)
Rhotm2.1Kpal mutation (0 available); any Rho mutation (38 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





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
01/18/2022
MGI 6.17
The Jackson Laboratory