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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Prph2tm1.1Itl
targeted mutation 1.1, inGenious Targeting Laboratory
MGI:6367794
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Prph2tm1.1Itl/Prph2tm1.1Itl Not Specified MGI:6423341
ht2
 		Prph2tm1.1Itl/Prph2+ Not Specified MGI:6423338


Genotype
MGI:6423341
hm1
Allelic
Composition		 Prph2tm1.1Itl/Prph2tm1.1Itl
Genetic
Background		 Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prph2tm1.1Itl mutation (0 available); any Prph2 mutation (27 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
abnormal ocular fundus morphology ( J:215646 )
• widespread yellow flecks are seen in the fundus at P180
• however, no changes in retinal vasculature are seen at P180
abnormal photoreceptor outer segment morphology ( J:215646 )
• small rounded outer segment structures are seen at P30 that disappear by P180
• outer segment formation initiates, however structures are small at P30 and outer segments do not exhibit normal discs/lamellae but do have flattened, whorl shaped membranes
• many abnormal vesicular structures line up adjacent to the flattened discs
abnormal photoreceptor outer segment disc membrane morphology ( J:215646 )
• abnormal disc sizing
• misorientation of outer segment discs in relation to each other and the axoneme/connecting cilium
retina photoreceptor degeneration ( J:215646 )
• photoreceptor degeneration is severe by P180
retina outer nuclear layer degeneration ( J:215646 )
• small reduction in the outer nuclear layer thickness at P30 and by P180, the outer nuclear layer is thin in the central retina and almost absent in the periphery
decreased a-wave amplitude ( J:215646 )
• scotopic a wave amplitude is reduced at P30 and P180
decreased b-wave amplitude ( J:215646 )
• scotopic b wave amplitude is reduced at P30 and P180
• photopic b wave amplitude is reduced at P30 and P180
abnormal cone electrophysiology ( J:215646 )
• photopic ERG responses are lower
abnormal rod electrophysiology ( J:215646 )
• scotopic responses are reduced at P30 and P180, with no mice exhibiting an a-wave above the limit of detection

nervous system
abnormal photoreceptor outer segment morphology ( J:215646 )
• small rounded outer segment structures are seen at P30 that disappear by P180
• outer segment formation initiates, however structures are small at P30 and outer segments do not exhibit normal discs/lamellae but do have flattened, whorl shaped membranes
• many abnormal vesicular structures line up adjacent to the flattened discs
abnormal photoreceptor outer segment disc membrane morphology ( J:215646 )
• abnormal disc sizing
• misorientation of outer segment discs in relation to each other and the axoneme/connecting cilium
retina photoreceptor degeneration ( J:215646 )
• photoreceptor degeneration is severe by P180

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
patterned macular dystrophy 1 DOID:0060866 OMIM:169150
 J:215646




Genotype
MGI:6423338
ht2
Allelic
Composition		 Prph2tm1.1Itl/Prph2+
Genetic
Background		 Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prph2tm1.1Itl mutation (0 available); any Prph2 mutation (27 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
abnormal ocular fundus morphology ( J:215646 )
• widespread yellow flecks are seen in the fundus at P180 but not at P30
abnormal photoreceptor outer segment morphology ( J:215646 )
• P30 outer segment abnormalities include some lengthening of discs, and accumulation of vesicular structures while some cells are normal
• however, outer segment exhibits better disc sizing, stacking and alignment than in Prph2Rd2 heterozygotes at P30
abnormal photoreceptor outer segment disc membrane morphology ( J:215646 )
• abnormal disc sizing
• misorientation of outer segment discs in relation to each other and the axoneme/connecting cilium
short photoreceptor outer segment ( J:215646 )
• outer segment layers are thinner
retina outer nuclear layer degeneration ( J:215646 )
• the outer nuclear layer is thinner by P180 but not at P30
decreased a-wave amplitude ( J:215646 )
• scotopic a wave amplitude is reduced at P30 and P180
decreased b-wave amplitude ( J:215646 )
• scotopic b wave amplitude is reduced at P30 and P180
• however, phototopic b wave amplitudes are similar to wild-type mice at P30
abnormal rod electrophysiology ( J:215646 )
• scotopic responses are reduced at P30 and P180
• a:b wave ratios are lower than in wild-type mice

nervous system
abnormal photoreceptor outer segment morphology ( J:215646 )
• P30 outer segment abnormalities include some lengthening of discs, and accumulation of vesicular structures while some cells are normal
• however, outer segment exhibits better disc sizing, stacking and alignment than in Prph2Rd2 heterozygotes at P30
abnormal photoreceptor outer segment disc membrane morphology ( J:215646 )
• abnormal disc sizing
• misorientation of outer segment discs in relation to each other and the axoneme/connecting cilium
short photoreceptor outer segment ( J:215646 )
• outer segment layers are thinner

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
patterned macular dystrophy 1 DOID:0060866 OMIM:169150
 J:215646




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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
04/30/2024
MGI 6.23 		The Jackson Laboratory