All Phenotypes Lrat<tm1Kpal> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lrat^tm1Kpal/Lrat^tm1Kpal	involves: 129S6/SvEvTac	MGI:3039274
ht2	Lrat^tm1Kpal/Lrat⁺	involves: 129S6/SvEvTac	MGI:3039275
cx3	Lrat^tm1Kpal/Lrat^tm1Kpal Rho^tm1.1Kpal/Rho⁺ Rpe65^450L/Rpe65^450M	involves: 129S6/SvEvTac * C57BL/6 * FVB/N	MGI:4947236
cx4	Lrat^tm1Kpal/Lrat^tm1Kpal Rho^tm2.1Kpal/Rho^tm2.1Kpal	involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac	MGI:5474862

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

vision/eye

abnormal retina photoreceptor morphology ( J:136882 )

• after 8 weeks of dark-rearing, rod pigment isorhodopsin levels are decreased compared to homozygous Rpe65^tm1Tmr 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

short photoreceptor outer segment ( J:136882 )

• rod outer segments decrease in length

abnormal retina cone cell outer segment morphology ( J:136882 )

• cone outer segment disintegration is advanced in the P28 retina

retina photoreceptor degeneration ( J:136882 )

retina cone cell degeneration ( J:136882 )

• rapid degeneration of cone photoreceptors, with M/L-opsin completely absent at P28 and S-opsin totally absent at P42

retina rod cell degeneration ( J:136882 )

• slow rod photoreceptor degeneration

thin retina outer nuclear layer ( J:170648 )

• at P28-3

nervous system

abnormal retina photoreceptor morphology ( J:136882 )

• after 8 weeks of dark-rearing, rod pigment isorhodopsin levels are decreased compared to homozygous Rpe65^tm1Tmr 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

short photoreceptor outer segment ( J:136882 )

• rod outer segments decrease in length

abnormal retina cone cell outer segment morphology ( J:136882 )

• cone outer segment disintegration is advanced in the P28 retina

retina photoreceptor degeneration ( J:136882 )

retina cone cell degeneration ( J:136882 )

• rapid degeneration of cone photoreceptors, with M/L-opsin completely absent at P28 and S-opsin totally absent at P42

retina rod cell degeneration ( J:136882 )

• 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

Allelic Composition	Lrat^tm1Kpal/Lrat⁺
Genetic Background	involves: 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrat^tm1Kpal mutation (1 available); any Lrat mutation (26 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

homeostasis/metabolism

abnormal vitamin A metabolism ( J:88871 )

• mildly affected kinetics of retinoid flow with transient accumulation of all-trans-retinyl esters and all-trans-retinol

vision/eye

vision/eye phenotype ( J:88871 )

N	• normal retina histology, and ERG and pupillary responses

Allelic Composition	Lrat^tm1Kpal/Lrat^tm1Kpal Rho^tm1.1Kpal/Rho⁺ Rpe65^450L/Rpe65^450M
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrat^tm1Kpal mutation (1 available); any Lrat mutation (26 available)
Rho^tm1.1Kpal mutation (1 available); any Rho mutation (48 available)
Rpe65^450L mutation (1 available); any Rpe65 mutation (48 available)
Rpe65^450M mutation (0 available); any Rpe65 mutation (48 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Effect of genetic depletion of 11-cis-retinal production (Lrat^tm1Kpal/Lrat^tm1Kpal) on retinal degeneration in Rho^tm1.1Kpal/Rho⁺ mice

vision/eye

decreased retina photoreceptor cell number ( J:170648 )

• dramatically reduced at P36

abnormal retina rod cell outer segment morphology ( J:170648 )

• less than in Rho^tm1.1Kpal heterozygotes

retina photoreceptor degeneration ( J:170648 )

• due to increased apoptosis

retina rod cell degeneration ( J:170648 )

• less than in Rho^tm1.1Kpal heterozygotes

thin retina outer nuclear layer ( J:170648 )

retina degeneration ( J:170648 )

• at P36

nervous system

decreased retina photoreceptor cell number ( J:170648 )

• dramatically reduced at P36

abnormal retina rod cell outer segment morphology ( J:170648 )

• less than in Rho^tm1.1Kpal heterozygotes

retina photoreceptor degeneration ( J:170648 )

• due to increased apoptosis

retina rod cell degeneration ( J:170648 )

• less than in Rho^tm1.1Kpal heterozygotes

Allelic Composition	Lrat^tm1Kpal/Lrat^tm1Kpal Rho^tm2.1Kpal/Rho^tm2.1Kpal
Genetic Background	involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrat^tm1Kpal mutation (1 available); any Lrat mutation (26 available)
Rho^tm2.1Kpal mutation (0 available); any Rho mutation (48 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Severe retinal degeneration in Rho^tm2.1Kpal/Rho^tm2.1Kpal Gnat1^tm1Clma/Gnat1^tm1Clma mice and less severe degeneration in Rho^tm2.1Kpal/Rho^tm2.1Kpal Lrat^tm1Kpal/Lrat^tm1Kpal mice

vision/eye

retina photoreceptor degeneration ( J:194158 )

• less severe than in Rho^tm2.1Kpal homozygotes

thin retina outer nuclear layer ( J:194158 )

• less severe than in Rho^tm2.1Kpal homozygotes

nervous system

retina photoreceptor degeneration ( J:194158 )

• less severe than in Rho^tm2.1Kpal 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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