Phenotypes associated with this allele

• Allele Symbol: Prph2^tm1Nmc
• Allele Name: targeted mutation 1, Niamh McNally
• Allele ID: MGI:2182621
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Prph2^tm1Nmc/Prph2^tm1Nmc	involves: 129S1/Sv * 129X1/SvJ	MGI:3836163
ht2	Prph2^tm1Nmc/Prph2^+	involves: 129S1/Sv * 129X1/SvJ	MGI:3836162

Genotype
MGI:3836163

hm1

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

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

vision/eye

increased retina apoptosis ( J:76490 )

• at 5 weeks, mice exhibit an increase in apoptosis in the outer nuclear layer unlike in wild-type mice

decreased retina rod cell number ( J:76490 )

absent photoreceptor outer segment ( J:76490 )

thin retina outer nuclear layer ( J:76490 )

• at 5 weeks, the outer nuclear layer is only 3 or 4 nuclei thick unlike in wild-type mice

abnormal retina outer plexiform layer morphology ( J:76490 )

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

• mice exhibit 4 or 5 rows of photoreceptor nuclei at 1 month and 1 row at 4 months

abnormal rod electrophysiology ( J:76490 )

• absent at 1 month of age

nervous system

decreased retina rod cell number ( J:76490 )

absent photoreceptor outer segment ( J:76490 )

cellular

increased retina apoptosis ( J:76490 )

• at 5 weeks, mice exhibit an increase in apoptosis in the outer nuclear layer unlike in wild-type mice

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

Genotype
MGI:3836162

ht2

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

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