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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 (7 available); any Rho mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

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

vision/eye
• absence of the outer segments
• initial retinal development characterized by absence of outer segments
• progressive degeneration of the outer nuclear layer
• observed 90 days after birth
• progressive degeneration completing around 90 days of age

nervous system
• 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 (7 available); any Rho mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• the outer nuclear layer begins to degenerate at 4 weeks of age and is almost completely degenerated by 12 weeks of age
• 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
• 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 (7 available); any Rho mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

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

vision/eye
• 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
• by 90 days, the outer nuclear layer was reduced in thickness by one to two rows
• decreased sensitivity to light
• accelerated flash-response kinetics

nervous system
• 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 (37 available)
Rhotm1Jlem mutation (7 available); any Rho mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• 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 (13 available)
Rhotm1Jlem mutation (7 available); any Rho mutation (37 available)
Tg(CAG-cre/Esr1*)5Amc mutation (8 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
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 (55 available)
Rhotm1Jlem mutation (7 available); any Rho mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• outer segments fail to form unlike in wild-type mice
• photoreceptor loss is delayed compared to in Ahi1tm1Jgg homozygotes

nervous system
• outer segments fail to form unlike in wild-type mice
• 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 (7 available); any Rho mutation (37 available)
Tg(RHO*P347S)A1Tili mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• mice exhibit a shortened outer segment at 4 weeks of age
• the outer nuclear layer begins to degenerate at 4 weeks of age and is completely degenerated by 24 weeks of age
• severe retinal degeneration at 1 month of age
• 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
• 3-fold reduction in b-waves at 4 weeks of age and complete loss of b-waves at 12 weeks of age

nervous system
• 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





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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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last database update
06/28/2022
MGI 6.20
The Jackson Laboratory