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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Prph2tm4.1Itl
targeted mutation 4.1, inGenious Targeting Laboratory
MGI:6492300
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Prph2tm4.1Itl/Prph2tm4.1Itl Not Specified MGI:6492346
ht2
 		Prph2tm4.1Itl/Prph2+ Not Specified MGI:6492344


Genotype
MGI:6492346
hm1
Allelic
Composition		 Prph2tm4.1Itl/Prph2tm4.1Itl
Genetic
Background		 Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prph2tm4.1Itl 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:292411 )
• fundus exhibits a retinal yellow flecking at P180
• the flecking is masked by large splotchy areas at P365
abnormal retina vasculature morphology ( J:292411 )
• while retinal vasculature appears largely normal at P180, leaky vasculature is seen at P365
abnormal photoreceptor outer segment morphology ( J:292411 )
• outer segment formation is initiated but not completed as indicated by disorganized membranous, disc-like structures and tiny abnormal outer segment structures
abnormal photoreceptor outer segment disc membrane morphology ( J:292411 )
• retinas exhibit highly disorganized membranous, disc-like structures
thin retina outer nuclear layer ( J:292411 )
• mice show degeneration/thinning of the outer nuclear layer at P30
retina outer nuclear layer degeneration ( J:292411 )
• mice show degeneration/thinning of the outer nuclear layer at P30
decreased a-wave amplitude ( J:292411 )
• scotopic a-wave amplitude is very low at P30
decreased b-wave amplitude ( J:292411 )
• photopic b-wave amplitude in response to white, UV and green light is very low at P30
• scotopic b-wave amplitude is very low at P30
abnormal cone electrophysiology ( J:292411 )
• reduced photopic response is seen at P30
abnormal rod electrophysiology ( J:292411 )
• little or no scotopic response is seen at P30

cardiovascular system
abnormal retina vasculature morphology ( J:292411 )
• while retinal vasculature appears largely normal at P180, leaky vasculature is seen at P365

nervous system
abnormal photoreceptor outer segment morphology ( J:292411 )
• outer segment formation is initiated but not completed as indicated by disorganized membranous, disc-like structures and tiny abnormal outer segment structures
abnormal photoreceptor outer segment disc membrane morphology ( J:292411 )
• retinas exhibit highly disorganized membranous, disc-like structures

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
patterned macular dystrophy 1 DOID:0060866 OMIM:169150
 J:292411




Genotype
MGI:6492344
ht2
Allelic
Composition		 Prph2tm4.1Itl/Prph2+
Genetic
Background		 Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prph2tm4.1Itl 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:292411 )
• fundus exhibits a retinal flecking phenotype by P180, but not at P30, that persists at P365
abnormal photoreceptor outer segment morphology ( J:292411 )
• outer segment structures are irregular compared to wild-type
retina outer nuclear layer degeneration ( J:292411 )
• outer nuclear layer degeneration is seen at P30
decreased a-wave amplitude ( J:292411 )
• mice show an approximate 60% reduction in maximum scotopic a-wave amplitude at P30
decreased b-wave amplitude ( J:292411 )
• mice show a reduction in maximum scotopic b-wave amplitude at P30 which persists at P180 and P365
• mice show a reduction in maximum photopic b-wave amplitude at P30 in response to white, UV, and green light, and at P180 and P365 in response to white light
abnormal cone electrophysiology ( J:292411 )
• early onset decline in photopic light evoked responses
• photopic ERG on light-adapted mice indicates that cone function is reduced at P30 and is further reduced at P180 and P365
abnormal rod electrophysiology ( J:292411 )
• early onset decline in scotopic light evoked responses

nervous system
abnormal photoreceptor outer segment morphology ( J:292411 )
• outer segment structures are irregular compared to wild-type

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
patterned macular dystrophy 1 DOID:0060866 OMIM:169150
 J:292411




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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Send questions and comments to User Support. 		last database update
04/30/2024
MGI 6.23 		The Jackson Laboratory