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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Rhotm1Jlem
targeted mutation 1, Janis Lem
MGI:2680822
Summary 7 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Rhotm1Jlem/Rhotm1Jlem involves: 129S4/SvJae MGI:2680836
hm2
 		Rhotm1Jlem/Rhotm1Jlem involves: 129S4/SvJae * FVB/N MGI:6378571
ht3
 		Rhotm1Jlem/Rho+ involves: 129S4/SvJae MGI:2680837
ht4
 		RhoR3/Rhotm1Jlem involves: 129S4/SvJae * C57BL/6J MGI:4367270
cn5
 		Nrltm1Jcco/Nrltm1Jcco
Rhotm1Jlem/Rhotm1Jlem
Tg(CAG-cre/Esr1*)5Amc/0 		involves: 129S4/SvJae * C57BL/6 * CBA MGI:5490597
cx6
 		Ahi1tm1Jgg/Ahi1tm1Jgg
Rhotm1Jlem/Rho+ 		involves: 129 * C57BL/6 * FVB/N MGI:4437802
cx7
 		Rhotm1Jlem/Rhotm1Jlem
Tg(RHO*P347S)A1Tili/0 		involves: 129S4/SvJae * FVB/N MGI:6378570


Genotype
MGI:2680836
hm1
Allelic
Composition		 Rhotm1Jlem/Rhotm1Jlem
Genetic
Background		 involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rhotm1Jlem mutation (6 available); any Rho mutation (51 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Retinal morphology of Rhotm1Jlem/Rho+ and Rhotm1Jlem/Rhotm1Jlem mice

vision/eye
absent photoreceptor outer segment ( J:52281 )
• absence of the outer segments
abnormal eye development ( J:52281 )
• initial retinal development characterized by absence of outer segments
retina outer nuclear layer degeneration ( J:52281 )
• progressive degeneration of the outer nuclear layer
disorganized retina layers ( J:52281 )
• observed 90 days after birth
increased susceptibility to age-related retinal degeneration ( J:52281 )
• progressive degeneration completing around 90 days of age

nervous system
absent photoreceptor outer segment ( J:52281 )
• absence of the outer segments




Genotype
MGI:6378571
hm2
Allelic
Composition		 Rhotm1Jlem/Rhotm1Jlem
Genetic
Background		 involves: 129S4/SvJae * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rhotm1Jlem mutation (6 available); any Rho mutation (51 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
retina outer nuclear layer degeneration ( J:280289 )
• the outer nuclear layer begins to degenerate at 4 weeks of age and is almost completely degenerated by 12 weeks of age
abnormal a-wave shape ( J:280289 )
• mice exhibit no a-waves at 4 weeks of age
• gene therapy with a microRNA sequence that specifically silences the pathogenic human rhodopsin gene and replacement with a rhodopsin that is resistant to this microRNA at P19 results in rescue of visual function
absent b-wave ( J:280289 )
• mice exhibit no b-waves at 4 weeks of age




Genotype
MGI:2680837
ht3
Allelic
Composition		 Rhotm1Jlem/Rho+
Genetic
Background		 involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rhotm1Jlem mutation (6 available); any Rho mutation (51 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Retinal morphology of Rhotm1Jlem/Rho+ and Rhotm1Jlem/Rhotm1Jlem mice

vision/eye
short photoreceptor outer segment ( J:52281 )
• 15 days of age, outer segments (OS) were ~50% shorter than those of wild-type
• by 90 days, the OS were slightly shorter than those of wild-type
thin retina outer nuclear layer ( J:52281 )
• by 90 days, the outer nuclear layer was reduced in thickness by one to two rows
abnormal vision ( J:52281 )
• decreased sensitivity to light
• accelerated flash-response kinetics

nervous system
short photoreceptor outer segment ( J:52281 )
• 15 days of age, outer segments (OS) were ~50% shorter than those of wild-type
• by 90 days, the OS were slightly shorter than those of wild-type




Genotype
MGI:4367270
ht4
Allelic
Composition		 RhoR3/Rhotm1Jlem
Genetic
Background		 involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
RhoR3 mutation (0 available); any Rho mutation (51 available)
Rhotm1Jlem mutation (6 available); any Rho mutation (51 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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 RhoR3/+ and RhoR3 homozygous mice
• from 21 days, by which the homozygous ENU mutants entirely lack ONL nuclei, the compound heterozygotes retain approximately half as many as RhoR3/+ mice until both level out at day 35, RhoR3/+ 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




Genotype
MGI:5490597
cn5
Allelic
Composition		 Nrltm1Jcco/Nrltm1Jcco
Rhotm1Jlem/Rhotm1Jlem
Tg(CAG-cre/Esr1*)5Amc/0
Genetic
Background		 involves: 129S4/SvJae * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nrltm1Jcco mutation (1 available); any Nrl mutation (18 available)
Rhotm1Jlem mutation (6 available); any Rho mutation (51 available)
Tg(CAG-cre/Esr1*)5Amc mutation (10 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Rod reprogramming prevents retinal degeneration in tamoxifen treated Rhotm1Jlem/Rhotm1Jlem Nrltm1Jcco/Nrltm1Jcco Tg(CAG-cre/Esr1*)5Amc/0 mice

vision/eye
vision/eye phenotype ( J:193697 )
N
• photoreceptor death observed in Rhotm1Jlem homozygotes is prevented in tamoxifen-treated mice with preservation of rod cell bodies and inner segments and intact photopic b-wave over a wide range of flash intensities




Genotype
MGI:4437802
cx6
Allelic
Composition		 Ahi1tm1Jgg/Ahi1tm1Jgg
Rhotm1Jlem/Rho+
Genetic
Background		 involves: 129 * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ahi1tm1Jgg mutation (1 available); any Ahi1 mutation (80 available)
Rhotm1Jlem mutation (6 available); any Rho mutation (51 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
absent photoreceptor outer segment ( J:158019 )
• outer segments fail to form unlike in wild-type mice
retina photoreceptor degeneration ( J:158019 )
• photoreceptor loss is delayed compared to in Ahi1tm1Jgg homozygotes

nervous system
absent photoreceptor outer segment ( J:158019 )
• outer segments fail to form unlike in wild-type mice
retina photoreceptor degeneration ( J:158019 )
• photoreceptor loss is delayed compared to in Ahi1tm1Jgg homozygotes




Genotype
MGI:6378570
cx7
Allelic
Composition		 Rhotm1Jlem/Rhotm1Jlem
Tg(RHO*P347S)A1Tili/0
Genetic
Background		 involves: 129S4/SvJae * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rhotm1Jlem mutation (6 available); any Rho mutation (51 available)
Tg(RHO*P347S)A1Tili mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
short photoreceptor outer segment ( J:280289 )
• mice exhibit a shortened outer segment at 4 weeks of age
retina outer nuclear layer degeneration ( J:280289 )
• the outer nuclear layer begins to degenerate at 4 weeks of age and is completely degenerated by 24 weeks of age
retina degeneration ( J:280289 )
• severe retinal degeneration at 1 month of age
abnormal a-wave shape ( J:280289 )
• 15-fold reduction in a- waves at 4 weeks of age and complete loss of a-waves at 12 weeks of age
• gene therapy with a microRNA sequence that specifically silences the pathogenic human rhodopsin gene and replacement with a rhodopsin that is resistant to this microRNA at P19 results in rescue of visual function
absent b-wave ( J:280289 )
• 3-fold reduction in b-waves at 4 weeks of age and complete loss of b-waves at 12 weeks of age

nervous system
short photoreceptor outer segment ( J:280289 )
• mice exhibit a shortened outer segment at 4 weeks of age

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
retinitis pigmentosa 4 DOID:0110372 OMIM:613731
 J:280289




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
11/05/2024
MGI 6.24 		The Jackson Laboratory