About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Rhotm1Phm
targeted mutation 1, Peter Humphries
MGI:2181812
Summary 8 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Rhotm1Phm/Rhotm1Phm B6.129S1-Rhotm1Phm MGI:4413461
hm2
Rhotm1Phm/Rhotm1Phm involves: 129S1/Sv * 129X1/SvJ MGI:3836169
ht3
Rhotm1Phm/Rho+ involves: 129S1/Sv * 129X1/SvJ MGI:3836168
cx4
Rhotm1Phm/Rho+
Tg(Rho*G90D*A337V)202Sie/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA MGI:5441374
cx5
Rhotm1Phm/Rho+
Tg(Rho*G90D*A337V)202Sie/Tg(Rho*G90D*A337V)202Sie
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA MGI:5441375
cx6
Rhotm1Phm/Rhotm1Phm
Tg(Rho*G90D*A337V)202Sie/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA MGI:5441376
cx7
Rhotm1Phm/Rhotm1Phm
Tg(Rho*G90D*A337V)202Sie/Tg(Rho*G90D*A337V)202Sie
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA MGI:5441377
cx8
Cnga3tm1Biel/Cnga3tm1Biel
Rhotm1Phm/Rhotm1Phm
involves: C57BL/6 MGI:3521974


Genotype
MGI:4413461
hm1
Allelic
Composition
Rhotm1Phm/Rhotm1Phm
Genetic
Background
B6.129S1-Rhotm1Phm
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rhotm1Phm mutation (2 available); any Rho mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• at 6 weeks of age electroretinograms show normal cone responses but no rod driven responses, and both the light and dark adapted electroretinograms show small oscillatory potential power spectra with peak frequencies of 70 to 90 Hz




Genotype
MGI:3836169
hm2
Allelic
Composition
Rhotm1Phm/Rhotm1Phm
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rhotm1Phm mutation (2 available); any Rho mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• at 48 days, the retinal outer segment and retinal inner segment are thinned further than at earlier time points unlike in wild-type mice
• the retinal outer segment is thinner than in wild-type or heterozygous mice
• at 28 days, the outer nuclear layer (ONL) is 8 to 10 nuclei thick compared to 10 to 12 nucleic in wild-type mice
• at 48 days, the ONL is reduced to half of the width at 24 days
• degeneration is complete by 3 months
• light-adapted mice exhibit a somewhat reduced cone response without an a-wave unlike in wild-type mice
• dark-adapted mice exhibit no electroretinography responses below -0.3 cd/m2 and while small b-waves are generated at high intensities no a-wave is observed
• b-wave response is narrower with a faster time course than in wild-type mice and lacks most of the oscillatory potential observed on the leading edge of the dark-adapted b-waves in wild-type mice

nervous system
• at 48 days, the retinal outer segment and retinal inner segment are thinned further than at earlier time points unlike in wild-type mice
• the retinal outer segment is thinner than in wild-type or heterozygous mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
retinitis pigmentosa 4 DOID:0110372 OMIM:613731
J:38098




Genotype
MGI:3836168
ht3
Allelic
Composition
Rhotm1Phm/Rho+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rhotm1Phm mutation (2 available); any Rho mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye

nervous system




Genotype
MGI:5441374
cx4
Allelic
Composition
Rhotm1Phm/Rho+
Tg(Rho*G90D*A337V)202Sie/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rhotm1Phm mutation (2 available); any Rho mutation (37 available)
Tg(Rho*G90D*A337V)202Sie mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• mice exhibit normal outer nuclear layer thickness, retinal outer segment length, photoreceptor numbers and rhodopsin complement
• at 16 weeks, mice exhibit reduced maximal a-wave amplitude and increased a-wave threshold compared with Rhotm1Phm heterozygotes
• mice exhibit loss of rod sensitivity with rod photoreceptor desensitization and faster response time to peak compared with Rhotm1Phm heterozygotes
• rods exhibit a partially light-adapted phenotype




Genotype
MGI:5441375
cx5
Allelic
Composition
Rhotm1Phm/Rho+
Tg(Rho*G90D*A337V)202Sie/Tg(Rho*G90D*A337V)202Sie
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rhotm1Phm mutation (2 available); any Rho mutation (37 available)
Tg(Rho*G90D*A337V)202Sie mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• normal rod outer segments and minimal rod cell loss
• at 24 weeks, mice exhibit reduced maximal a- and b-wave amplitude and increased a- and b-wave threshold compared with Rhotm1Phm heterozygotes
• increased equivalent background light level
• rods exhibit a partially light-adapted phenotype




Genotype
MGI:5441376
cx6
Allelic
Composition
Rhotm1Phm/Rhotm1Phm
Tg(Rho*G90D*A337V)202Sie/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rhotm1Phm mutation (2 available); any Rho mutation (37 available)
Tg(Rho*G90D*A337V)202Sie mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• mice develop outer segments unlike Rhotm1Phm homozygotes
• slower than in Rhotm1Phm homozygotes
• 60% of normal at 14 weeks

nervous system
• slower than in Rhotm1Phm homozygotes




Genotype
MGI:5441377
cx7
Allelic
Composition
Rhotm1Phm/Rhotm1Phm
Tg(Rho*G90D*A337V)202Sie/Tg(Rho*G90D*A337V)202Sie
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rhotm1Phm mutation (2 available); any Rho mutation (37 available)
Tg(Rho*G90D*A337V)202Sie mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype



Genotype
MGI:3521974
cx8
Allelic
Composition
Cnga3tm1Biel/Cnga3tm1Biel
Rhotm1Phm/Rhotm1Phm
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cnga3tm1Biel mutation (0 available); any Cnga3 mutation (20 available)
Rhotm1Phm mutation (2 available); any Rho mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• at 9 months, some of the axon terminals of rod bipolar cells have retracted and/or appear swollen; the ribbon synapses are almost absent
• in contrast, the stratification pattern of cone bipolar cell axons and amacrine cell processes appear relatively unaffected
• at PW5, many of the horizontal cell processes of mutant retinas show extensive sprouting into the ONL and INL
• at 2 months, the double mutant retina exhibits a massive reduction of the outer nuclear layer, whereas the inner retina remains unaffected
• by 10 months, the outer retina has degenerated completely, whereas the inner retina still appears morphologically intact
• at later stages of retinal degeneration, the inner plexiform layer (IPL) is also affected
• in double mutants, photoreceptor degeneration begins at ~PW4 and increases rapidly after PW7
• at PW10, the photoreceptor layer is reduced to one row of nuclei; by PW12, the entire ONL is missing in most parts of the retina
• by PW4, the number of rod spherules is reduced to <50% of wild-type number
• double mutants have rod spherules with 2, 3, or more synaptic ribbons and larger numbers of postsynaptic elements
• at PW4, 45% of mutant rod spherules have 2 or more ribbons, whereas only 4% of wild-type shperules have more than 1 ribbon
• by PW5 and PW6, >80% of the surviving rod spherules contain 2 or more ribbons
• double mutants exhibit a progressive degeneration of all photoreceptors within 3 months after birth
• notably, double mutants display normal expression of presynaptic markers and postsynaptic glutamate receptors in the outer plexiform layer (OPL) until postnatal week 7 (PW7)
• at ~P35, scotopic ERGs confirm loss of both rod and cone-driven responses in double homozygotes

nervous system
• in double mutants, photoreceptor degeneration begins at ~PW4 and increases rapidly after PW7
• at PW10, the photoreceptor layer is reduced to one row of nuclei; by PW12, the entire ONL is missing in most parts of the retina
• at 9 months, some of the axon terminals of rod bipolar cells have retracted and/or appear swollen; the ribbon synapses are almost absent
• in contrast, the stratification pattern of cone bipolar cell axons and amacrine cell processes appear relatively unaffected
• at PW5, many of the horizontal cell processes of mutant retinas show extensive sprouting into the ONL and INL
• by PW4, the number of rod spherules is reduced to <50% of wild-type number
• double mutants have rod spherules with 2, 3, or more synaptic ribbons and larger numbers of postsynaptic elements
• at PW4, 45% of mutant rod spherules have 2 or more ribbons, whereas only 4% of wild-type shperules have more than 1 ribbon
• by PW5 and PW6, >80% of the surviving rod spherules contain 2 or more ribbons
• double mutants exhibit a progressive degeneration of all photoreceptors within 3 months after birth
• notably, double mutants display normal expression of presynaptic markers and postsynaptic glutamate receptors in the outer plexiform layer (OPL) until postnatal week 7 (PW7)





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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/23/2022
MGI 6.20
The Jackson Laboratory