Phenotypes associated with this allele

• Allele Symbol: Rho^R3
• Allele Name: R3
• Allele ID: MGI:4367268
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rho^R3/Rho^R3	C57BL/6J-Rho^R3	MGI:4367272
ht2	Rho^R3/Rho^+	C57BL/6J-Rho^R3	MGI:4367269
ht3	Rho^R3/Rho^tm1Jlem	involves: 129S4/SvJae * C57BL/6J	MGI:4367270

Genotype
MGI:4367272

hm1

• Allelic Composition: Rho^R3/Rho^R3
• Genetic Background: C57BL/6J-Rho^R3

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

vision/eye

abnormal retina vasculature morphology ( J:153281 )

• attenuated retinal blood vessels are observed in photographs of the fundus at postnatal day (P) 21

increased retina apoptosis ( J:153281 )

• apoptotic cells, identified by their darkly staining and condensed nuclei, are prevalent in the outer nuclear layer (ONL) of homozygous mutant retinas

absent photoreceptor outer segment ( J:153281 )

• examination of the retinal ultrastructure by transmission electron microscopy (TEM) shows that no outer segments or discs are present at P7, the youngest age sampled

abnormal retina cone cell morphology ( J:153281 )

• cone opsins, as well as rhodopsin, mislocalize in the retinas of homozygous mutant mice

abnormal retina pigmentation ( J:153281 )

• unevenly distributed pigment patches are observed in photographs of the fundus at P21

abnormal retina inner nuclear layer morphology ( J:153281 )

• immunohistochemical analysis at P14 reveals the mutant rhodopsin protein accumulating in the photoreceptor inner segments and/or cell bodies instead of trafficking to the photoreceptor outer segments

retina outer nuclear layer degeneration ( J:153281 )

• by P18 the ONL is reduced to a single row of photoreceptors consisting only of cone cells

• apoptotic cells, identified by their darkly staining and condensed nuclei, are prevalent in the ONL of homozygous mutant retinas

retina degeneration ( J:153281 )

• severe and rapidly progressive

abnormal eye electrophysiology ( J:153281 )

• whole field scotopic electroretinography at P21 demonstrates severely reduced rod photoreceptor cell function; neither a- nor b-waves are detectable

nervous system

absent photoreceptor outer segment ( J:153281 )

• examination of the retinal ultrastructure by transmission electron microscopy (TEM) shows that no outer segments or discs are present at P7, the youngest age sampled

abnormal retina cone cell morphology ( J:153281 )

• cone opsins, as well as rhodopsin, mislocalize in the retinas of homozygous mutant mice

cardiovascular system

abnormal retina vasculature morphology ( J:153281 )

• attenuated retinal blood vessels are observed in photographs of the fundus at postnatal day (P) 21

pigmentation

abnormal retina pigmentation ( J:153281 )

• unevenly distributed pigment patches are observed in photographs of the fundus at P21

cellular

increased retina apoptosis ( J:153281 )

• apoptotic cells, identified by their darkly staining and condensed nuclei, are prevalent in the outer nuclear layer (ONL) of homozygous mutant retinas

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 4		DOID:0110372	OMIM:613731	J:153281

Genotype
MGI:4367269

ht2

• Allelic Composition: Rho^R3/Rho⁺
• Genetic Background: C57BL/6J-Rho^R3

vision/eye

abnormal retina vasculature morphology ( J:153281 )

• attenuated retinal blood vessels are observed in photographs of the fundus at postnatal day (P) 21

short photoreceptor outer segment ( J:153281 )

• examination of the retinal ultrastructure by transmission electron microscopy (TEM) reveals short outer segments with disorganized discs at P21

abnormal retina pigmentation ( J:153281 )

• unevenly distributed pigment patches are observed in photographs of the fundus at P21

abnormal retina inner nuclear layer morphology ( J:153281 )

• immunohistochemical analysis at P14 reveals the mutant rhodopsin protein accumulating in the photoreceptor inner segments and/or cell bodies instead of trafficking to the photoreceptor outer segments

retina outer nuclear layer degeneration ( J:153281 )

• the outer nuclear layer (ONL) of the retina is reduced by 50% by P18 and consists of only two rows of nuclei by P35

retina degeneration ( J:153281 )

• rapidly progressive

abnormal eye electrophysiology ( J:153281 )

• whole field scotopic electroretinography at P21 demonstrates severely reduced photoreceptor cell function: both a- and b-waves are severely attenuated, the a-wave amplitude reduced to approximately one-third that of wild-type mice

cardiovascular system

abnormal retina vasculature morphology ( J:153281 )

• attenuated retinal blood vessels are observed in photographs of the fundus at postnatal day (P) 21

pigmentation

abnormal retina pigmentation ( J:153281 )

• unevenly distributed pigment patches are observed in photographs of the fundus at P21

nervous system

short photoreceptor outer segment ( J:153281 )

• examination of the retinal ultrastructure by transmission electron microscopy (TEM) reveals short outer segments with disorganized discs at P21

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 4		DOID:0110372	OMIM:613731	J:153281

Genotype
MGI:4367270

ht3

• Allelic Composition: Rho^R3/Rho^tm1Jlem
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

vision/eye

retina outer nuclear layer degeneration ( J:153281 )

• between 14 and 21 days of age, complex heterozygotes for these two alleles exhibit progressive loss of ONL nuclei of intermediate severity between that of Rho^R3/+ and Rho^R3 homozygous mice

• from 21 days, by which the homozygous ENU mutants entirely lack ONL nuclei, the compound heterozygotes retain approximately half as many as Rho^R3/+ mice until both level out at day 35, Rho^R3/+ mice with 2 rows of nuclei and the compound heterozygotes with a single row

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 4		DOID:0110372	OMIM:613731	J:153281