All Phenotypes Prph2<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Prph2⁺
wild type
MGI:2433007

Summary

9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Prph2^em1Sal/Prph2⁺	C57BL/6J-Prph2^em1Sal	MGI:7593962
ht2	Prph2^Nmf193/Prph2⁺	C57BL/6J-Prph2^Nmf193	MGI:3846408
ht3	Prph2^Rd2/Prph2⁺	either: C.O20-Prph2^Rd2 or C3.O20-Prph2^Rd2	MGI:3620590
ht4	Prph2^Rd2/Prph2⁺	either: (involves: BALB/c * O20/A) or (involves: GR/A * O20/A) or (involves: O20/A * STS/A)	MGI:3620587
ht5	Prph2^Rd2/Prph2⁺	either: (involves: C3H * O20/A) or (involves: C57BL/LiA * O20/A)	MGI:3620588
ht6	Prph2^tm1Nmc/Prph2⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:3836162
ht7	Prph2^Rd2/Prph2⁺	involves: O20/A	MGI:6423348
ht8	Prph2^tm1.1Itl/Prph2⁺	Not Specified	MGI:6423338
ht9	Prph2^tm4.1Itl/Prph2⁺	Not Specified	MGI:6492344

Allelic Composition	Prph2^em1Sal/Prph2⁺
Genetic Background	C57BL/6J-Prph2^em1Sal

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prph2^em1Sal mutation (0 available); any Prph2 mutation (26 available)

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

vision/eye

eye inflammation ( J:342243 )

• the percentage of CD45^high cell population is increased in retinas at 9 and 12 months of age

abnormal photoreceptor outer segment morphology ( J:342243 )

• outer segments look swollen

abnormal retina cone cell outer segment morphology ( J:342243 )

• the outer segments of cones show an unusual twisted appearance, losing the normal straight organization

thin retina outer nuclear layer ( J:342243 )

• differences in outer nuclear layer thickness start to be significant from 6 months of age

• outer nuclear layer thickness diminishes progressively and smoothly with time

• however, no differences in thickness of the inner nuclear layer is seen

retina outer nuclear layer degeneration ( J:342243 )

decreased total retina thickness ( J:342243 )

• total retinal thickness is thinner by 9 months of age

retina degeneration ( J:342243 )

abnormal electroretinogram waveform feature ( J:342243 )

• ERG responses progressively diminish with age, with responses being less severely affected than in homozygotes

decreased a-wave amplitude ( J:342243 )

• the maximum scotopic a-wave values decrease from 6 months of age (33% reduction) and remain noticeable at 20 months of age

decreased b-wave amplitude ( J:342243 )

• the maximum scotopic b-wave responses are reduced

decreased visual acuity ( J:342243 )

• visual acuity progressively decreases with age; mice show 24% reduction in visual acuity at 6 months of age and 32% reduction at 20 months of age

nervous system

abnormal photoreceptor outer segment morphology ( J:342243 )

• outer segments look swollen

abnormal retina cone cell outer segment morphology ( J:342243 )

• the outer segments of cones show an unusual twisted appearance, losing the normal straight organization

abnormal synapse morphology ( J:342243 )

• pedicles (the synaptic terminals of cone photoreceptors) show some morphological alternations in the retina, showing unusual telodendria

immune system

eye inflammation ( J:342243 )

• the percentage of CD45^high cell population is increased in retinas at 9 and 12 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
partial central choroid dystrophy		DOID:9822	OMIM:613105	J:342243

Allelic Composition	Prph2^Nmf193/Prph2⁺
Genetic Background	C57BL/6J-Prph2^Nmf193

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prph2^Nmf193 mutation (1 available); any Prph2 mutation (26 available)

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

vision/eye

abnormal retina vasculature morphology ( J:148636 )

• vasculature drops out as retinas degenerate with only remnants available by 9 months of age

increased retina apoptosis ( J:148636 )

• retinal neurons have increased rates of apoptosis at 1.5 months of age

short photoreceptor outer segment ( J:148636 )

• outer segment layer is shorter than wild-type at 6 weeks of age

disorganized retina outer nuclear layer ( J:148636 )

• many displaced nuclei are observed in the outer segment at 6 months of age compared to controls

retina outer nuclear layer degeneration ( J:148636 )

• the outer nuclear layer is reduced by 70% compared to controls at 6 months of age

• by 10 months of age the outer nuclear layer is 4 cells thick

retina spots ( J:148636 )

• a few bright retinal spots are evident at 1.5 months of age

• spots have an increased density at 3 months of age and involve a majority of the retina of 9 months of age

abnormal cone electrophysiology ( J:148636 )

• mice have cell cone function that is only 84.6% of normal at 2 months of age compared to controls

• cone cell function is reduced to 63.9% of normal at 10 months of age

abnormal rod electrophysiology ( J:148636 )

• mice have rod cone function that is only 68.4% of normal at 2 months of age compared to controls

• rod cell function is reduced to 43.6% of normal at 10 months of age

nervous system

short photoreceptor outer segment ( J:148636 )

• outer segment layer is shorter than wild-type at 6 weeks of age

cardiovascular system

abnormal retina vasculature morphology ( J:148636 )

• vasculature drops out as retinas degenerate with only remnants available by 9 months of age

cellular

increased retina apoptosis ( J:148636 )

• retinal neurons have increased rates of apoptosis at 1.5 months of age

Allelic Composition	Prph2^Rd2/Prph2⁺
Genetic Background	either: C.O20-Prph2^Rd2 or C3.O20-Prph2^Rd2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prph2^Rd2 mutation (3 available); any Prph2 mutation (26 available)

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

vision/eye

abnormal Muller cell morphology ( J:27850 )

• at 2 months, high numbers of Muller cells and lower numbers of fibrillar tangles and horizontal fibers are seen relative to homozygous mice

• at 16 months, the density of Muller cells is increased compared to 2 months

thin retina outer nuclear layer ( J:27850 )

• at 16 months, the outer nuclear layer is reduced to 3 to 4 rows

nervous system

abnormal Muller cell morphology ( J:27850 )

• at 2 months, high numbers of Muller cells and lower numbers of fibrillar tangles and horizontal fibers are seen relative to homozygous mice

• at 16 months, the density of Muller cells is increased compared to 2 months

cellular

abnormal Muller cell morphology ( J:27850 )

• at 2 months, high numbers of Muller cells and lower numbers of fibrillar tangles and horizontal fibers are seen relative to homozygous mice

• at 16 months, the density of Muller cells is increased compared to 2 months

Allelic Composition	Prph2^Rd2/Prph2⁺
Genetic Background	either: (involves: BALB/c * O20/A) or (involves: GR/A * O20/A) or (involves: O20/A * STS/A)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prph2^Rd2 mutation (3 available); any Prph2 mutation (26 available)

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

vision/eye

abnormal eye development ( J:25582 )

• at P14, considerable portions of the retinal surface have fewer outer segments and those present have disc structures that are irregularly oriented

abnormal retina layer morphology ( J:25582 )

abnormal retina photoreceptor morphology ( J:25582 )

• at 18 months, some photoreceptor synaptic terminals have multiple synaptic ribbons

increased retina cone cell number ( J:25582 )

• the percentage of cones in the retina increases from 6 months on, with greater increases in the periphery than in the center of the retina

abnormal photoreceptor inner segment morphology ( J:25582 )

• occasional inner segments with swollen endoplasmic reticuli and vacuoles

abnormal photoreceptor outer segment morphology ( J:25582 )

• outer segments are delayed in development but eventually appear throughout the retinal surface

• outer segments are reduced in length and morphologically abnormal appearing as round masses present from the apical end of the inner segments to the pigment epthelial villous processes

• these round masses contain irregular whorls of disc membranes that appear to be swollen and vacuolated

• at 18 months, outer segments become reduced and somewhat patchy

abnormal retina pigment epithelium morphology ( J:25582 )

• pigment epithelial cells contain larger and more numerous phagosomes

• peak turnover of phagosomes during the light dark cycle is shifted towards the end of the light period

thin retina outer nuclear layer ( J:25582 )

• maximal outer nuclear layer thickness is only 50-60% of wild-type

• at 18 months, outer nuclear layer thickness is markedly decreased

• thinning of the outer nuclear layer is first seen in the peripheral retina and later seen in the central retina

nervous system

abnormal retina photoreceptor morphology ( J:25582 )

• at 18 months, some photoreceptor synaptic terminals have multiple synaptic ribbons

increased retina cone cell number ( J:25582 )

• the percentage of cones in the retina increases from 6 months on, with greater increases in the periphery than in the center of the retina

abnormal photoreceptor inner segment morphology ( J:25582 )

• occasional inner segments with swollen endoplasmic reticuli and vacuoles

abnormal photoreceptor outer segment morphology ( J:25582 )

• outer segments are delayed in development but eventually appear throughout the retinal surface

• outer segments are reduced in length and morphologically abnormal appearing as round masses present from the apical end of the inner segments to the pigment epthelial villous processes

• these round masses contain irregular whorls of disc membranes that appear to be swollen and vacuolated

• at 18 months, outer segments become reduced and somewhat patchy

pigmentation

abnormal retina pigment epithelium morphology ( J:25582 )

• pigment epithelial cells contain larger and more numerous phagosomes

• peak turnover of phagosomes during the light dark cycle is shifted towards the end of the light period

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 7		DOID:0110383	OMIM:608133	J:25582

Allelic Composition	Prph2^Rd2/Prph2⁺
Genetic Background	either: (involves: C3H * O20/A) or (involves: C57BL/LiA * O20/A)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prph2^Rd2 mutation (3 available); any Prph2 mutation (26 available)

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

vision/eye

abnormal photoreceptor outer segment morphology ( J:25582 )

• Background Sensitivity: in pigmented heterozygous mice outer segments resemble those in albino mice but have more disc membranes that appear more tightly packed and less vacuolated

nervous system

abnormal photoreceptor outer segment morphology ( J:25582 )

• Background Sensitivity: in pigmented heterozygous mice outer segments resemble those in albino mice but have more disc membranes that appear more tightly packed and less vacuolated

Allelic Composition	Prph2^tm1Nmc/Prph2⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prph2^tm1Nmc mutation (0 available); any Prph2 mutation (26 available)

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

vision/eye

decreased retina rod cell number ( J:76490 )

abnormal photoreceptor outer segment morphology ( J:76490 )

• the outer segment of cells in the outer nuclear layer are disrupted in number and configuration compared to in wild-type mice

short photoreceptor outer segment ( J:76490 )

disorganized photoreceptor outer segment ( J:76490 )

• whorl-like structures

abnormal retina pigment epithelium morphology ( J:76490 )

• fewer phagosomes are observed than in wild-type mice despite ongoing phagocytosis of the membrane

thin retina outer nuclear layer ( J:76490 )

• at 6 months, the outer nuclear layer (ONL) is only 4 or 5 nuclei thick and there is evidence of ongoing depletion of cells unlike in wild-type mice

• at 10 months, the ONL is only 3 or 4 nuclei thick unlike in wild-type mice

increased susceptibility to age-related retinal degeneration ( J:76490 )

• mice exhibit 9 or 10 rows of photoreceptor nuclei at 2 months, 4 or 5 rows at 6 months, and 2 or 3 rows at 12 months of age indicating a faster degeneration than in Prph2^Rd2 heterozygotes

abnormal eye electrophysiology ( J:76490 )

• at 6 months, a- and b-wave of dark-adapted eyes are less than in wild-type mice

• at 10 months, a- and b-waves, maximal dark-adapted responses, and cone-isolated responses are further reduced

nervous system

decreased retina rod cell number ( J:76490 )

abnormal photoreceptor outer segment morphology ( J:76490 )

• the outer segment of cells in the outer nuclear layer are disrupted in number and configuration compared to in wild-type mice

short photoreceptor outer segment ( J:76490 )

disorganized photoreceptor outer segment ( J:76490 )

• whorl-like structures

pigmentation

abnormal retina pigment epithelium morphology ( J:76490 )

• fewer phagosomes are observed than in wild-type mice despite ongoing phagocytosis of the membrane

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 7		DOID:0110383	OMIM:608133	J:76490

Allelic Composition	Prph2^Rd2/Prph2⁺
Genetic Background	involves: O20/A

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prph2^Rd2 mutation (3 available); any Prph2 mutation (26 available)

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

vision/eye

abnormal ocular fundus morphology ( J:215646 )

• 2/10 eyes exhibit very mild signs of flecking in the fundus at P180

abnormal photoreceptor outer segment disc membrane morphology ( J:215646 )

• highly abnormal membrane swirls in the outer segment

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 ERG responses are reduced at P30 and P180

nervous system

abnormal photoreceptor outer segment disc membrane morphology ( J:215646 )

• highly abnormal membrane swirls in the outer segment

short photoreceptor outer segment ( J:215646 )

• outer segment layers are thinner

Allelic Composition	Prph2^tm1.1Itl/Prph2⁺
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prph2^tm1.1Itl mutation (0 available); any Prph2 mutation (26 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 Prph2^Rd2 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 Prph2^Rd2 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

Allelic Composition	Prph2^tm4.1Itl/Prph2⁺
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prph2^tm4.1Itl mutation (0 available); any Prph2 mutation (26 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

short photoreceptor outer segment ( J:292411 )

retina photoreceptor degeneration ( J:292411 )

thin retina outer nuclear layer ( J:292411 )

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

short photoreceptor outer segment ( J:292411 )

retina photoreceptor degeneration ( J:292411 )

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

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