Phenotypes associated with this allele

• Allele Symbol: Grk1^tm1Citb
• Allele Name: targeted mutation 1, California Institute of Technology - Biology
• Allele ID: MGI:2668595
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Grk1^tm1Citb/Grk1^tm1Citb	involves: 129X1/SvJ * C57BL/6	MGI:2668598
cx2	Grk1^tm1Citb/Grk1^tm1Citb Nrl^tm1Asw/Nrl^tm1Asw	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3041984

Genotype
MGI:2668598

hm1

• Allelic Composition: Grk1^tm1Citb/Grk1^tm1Citb
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

Altered morphology of Grk1^tm1Citb/Grk1^tm1Citb retina

vision/eye

abnormal retina apoptosis ( J:54021 )

• light-induced apoptosis of rods

abnormal retina rod cell morphology ( J:54021 )

• impaired rhodopsin deactivation

short retina rod cell outer segment ( J:54021 )

• rod outer segments of mice raised in 12 hour cyclic illumination are 50% shorter than those of wild-type or mutant mice raised in darkness at 6 weeks of age

• however, retinas of mutants born and raised in darkness are normal

• mutants transferred from cyclic illumination to total darkness exhibit shortening of the outer segments, but to a smaller extent than see in mutants born and raised in cyclic illumination

retina photoreceptor degeneration ( J:54021 )

• when dark raised mutants are kept in continuous room light for 24 hours, retinas exhibit severe degeneration that is not observed in wild-type mice; degeneration is due to apoptosis

abnormal rod electrophysiology ( J:54021 )

• flash responses of rods are greatly prolonged; the single-photon response consists of a long plateau, about 2-fold larger in amplitude than in control

• the prolonged response decays suddenly and rapidly at variable times

nervous system

abnormal retina rod cell morphology ( J:54021 )

• impaired rhodopsin deactivation

short retina rod cell outer segment ( J:54021 )

• rod outer segments of mice raised in 12 hour cyclic illumination are 50% shorter than those of wild-type or mutant mice raised in darkness at 6 weeks of age

• however, retinas of mutants born and raised in darkness are normal

• mutants transferred from cyclic illumination to total darkness exhibit shortening of the outer segments, but to a smaller extent than see in mutants born and raised in cyclic illumination

retina photoreceptor degeneration ( J:54021 )

• when dark raised mutants are kept in continuous room light for 24 hours, retinas exhibit severe degeneration that is not observed in wild-type mice; degeneration is due to apoptosis

cellular

abnormal retina apoptosis ( J:54021 )

• light-induced apoptosis of rods

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Oguchi disease-2		DOID:0110713	OMIM:613411	J:54021

Genotype
MGI:3041984

cx2

• Allelic Composition: Grk1^tm1Citb/Grk1^tm1Citb; Nrl^tm1Asw/Nrl^tm1Asw
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

vision/eye

abnormal retina photoreceptor morphology ( J:84455 )

• in situ light-dependent phosphorylation of opsins ex vivo showed that neither S nor M opsin was phosphorylated in the double mutant mouse retina after light exposure

• however, retinas of double mutant mice displayed the same morphology as those of single Nrl mutant mice, and both S and M opsins were expressed in the double mutant retina at equivalent levels to those in single Nrl mutant retina

nervous system

abnormal retina photoreceptor morphology ( J:84455 )

• in situ light-dependent phosphorylation of opsins ex vivo showed that neither S nor M opsin was phosphorylated in the double mutant mouse retina after light exposure

• however, retinas of double mutant mice displayed the same morphology as those of single Nrl mutant mice, and both S and M opsins were expressed in the double mutant retina at equivalent levels to those in single Nrl mutant retina