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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pde6brd1
retinal degeneration 1
MGI:1856373
Summary 32 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pde6brd1/Pde6brd1 B.C3-Pde6brd1 MGI:3803330
hm2
Pde6brd1/Pde6brd1 C3H/HeJ MGI:3772702
hm3
Pde6brd1/Pde6brd1 CBA/Ki-Pde6brd1 MGI:3803328
hm4
Pde6brd1/Pde6brd1 either: C.Cg-Pde6brd1 or C3.Cg-Pde6brd1 MGI:3620591
hm5
Pde6brd1/Pde6brd1 involves: C3H MGI:5544476
hm6
Pde6brd1/Pde6brd1 involves: C57BL/6J MGI:7266500
hm7
Pde6brd1/Pde6brd1 Not Specified MGI:2178344
ht8
Pde6brd1-3H/Pde6brd1 involves: BALB/cAnN * C3H/HeN MGI:3028382
ht9
Pde6brd1-2H/Pde6brd1 involves: BALB/cAnN * C3H/HeN MGI:3028381
ht10
Pde6brd1-1H/Pde6brd1 involves: BALB/cAnN * C3H/HeN MGI:3028380
ht11
Pde6batrd3/Pde6brd1 involves: BALB/cAnN * C3H/HeN MGI:3028003
ht12
Pde6batrd2/Pde6brd1 involves: BALB/cAnN * C3H/HeN MGI:3028002
ht13
Pde6batrd1/Pde6brd1 involves: BALB/cAnN * C3H/HeN MGI:3027999
ht14
Pde6brd1-4H/Pde6brd1 involves: BALB/cAnN * C3H/HeN MGI:3028383
ht15
Pde6brd1/Pde6brgsc1754 involves: C3H * C57BL/6JJcl MGI:3817953
cx16
Pde6brd1/Pde6brd1
Prkcqrpea1/Prkcqrpea1
ABJ/LeJ-Prkcqrpea1/Boc MGI:5817729
cx17
Pde6brd1/Pde6brd1
Prkcqrpea1/Prkcqrpea1
B6.ABJ-Prkcqrpea1 Pde6brd1/Boc MGI:5817742
cx18
Hps4le/Hps4le
Pde6brd1/Pde6brd1
B6.C3-Pde6brd1 Hps4le MGI:3803329
cx19
Hps4le/Hps4le
Pde6brd1/Pde6brd1
B6.C3-Pde6brd1 Hps4le/J MGI:5700318
cx20
Opn4tm1Skay/Opn4tm1Skay
Pde6brd1/Pde6brd1
B6.Cg-Pde6brd1 Opn4tm1Skay MGI:5897205
cx21
Pde6brd1/Pde6brd1
Prph2Rd2/Prph2Rd2
either: C.Cg-Pde6brd1 Prph2Rd2 or C3.Cg-Pde6brd1 Prph2Rd2 MGI:3620592
cx22
Pde6brd1/Pde6brd1
Rhotm2(RHO/GFP)Jhw/Rho+
either: (involves: 129S7/SvEvBrd * C57BL/6J * FVB) or (involves: 129S7/SvEvBrd * C57BL/6-Tyrc * FVB) MGI:3046197
cx23
Pde6brd1/Pde6brd1
Pde6gtm1Goff/Pde6gtm1Goff
either: (involves: 129S/SvEv * C57BL/6 * MF1 * Swiss Webster) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * MF1 * Swiss Webster) MGI:3814999
cx24
Cry1tm1Asn/Cry1tm1Asn
Pde6brd1/Pde6brd1
involves: 129P2/OlaHsd MGI:3789957
cx25
Cry2tm1Asn/Cry2tm1Asn
Pde6brd1/Pde6brd1
involves: 129P2/OlaHsd MGI:3789958
cx26
Cry1tm1Asn/Cry1tm1Asn
Cry2tm1Asn/Cry2tm1Asn
Pde6brd1/Pde6brd1
involves: 129P2/OlaHsd * C3H/HeJ * C57BL/6 MGI:2451102
cx27
Casp3tm1Flv/Casp3tm1Flv
Pde6brd1/Pde6brd1
involves: 129S1 * C3H/FeJ * C57BL/6J MGI:3604192
cx28
Opn4tm1Skay/Opn4tm1Skay
Pde6brd1/Pde6brd1
involves: 129S1/SvImJ * C57BL/6 MGI:3803117
cx29
Cacnb2tm1Rgg/Cacnb2tm1Rgg
Pde6brd1/Pde6brd1
Tg(Myh6-Cacnb2)1Rgg/0
involves: 129S7/SvEvBrd * C57BL/6J * FVB MGI:2451250
cx30
Pde6brd1/Pde6brd1
Prph2Rd2/Prph2Rd2
involves: C3Hf/HeA * C57BL/LiA * O20/A MGI:3803331
cx31
Pde6brd1/Pde6brd1
Tg(OPN1LW-DT)1Mame/?
involves: C3H/He * C57BL/6 * C57BL/6J MGI:3767983
cx32
Pde6brd1/Pde6brd1
Tg(OPN1LW-DT)1Mame/?
Not Specified MGI:5694631


Genotype
MGI:3803330
hm1
Allelic
Composition
Pde6brd1/Pde6brd1
Genetic
Background
B.C3-Pde6brd1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye




Genotype
MGI:3772702
hm2
Allelic
Composition
Pde6brd1/Pde6brd1
Genetic
Background
C3H/HeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Retinal degeneration in Pde6brd1/Pde6brd1, and Pde6brd1/Pde6brd1 Cry1tm1Asn/Cry1tm1Asn Cry2tm1Asn/Cry2tm1Asn mouse retinas

vision/eye
N
• despite the absence of rods, mice exhibit normal photopotentiation (defined as a 50% augmentation in pupillary light response (PLR) compared to pre-bright light PLR during a one minute dim blue light exposure after bright light exposure)
• nearly complete absence of outer nuclear layer
• entire outer retina is destroyed, however the inner retina remains intact

nervous system

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
retinitis pigmentosa 40 DOID:0110375 OMIM:613801
J:140115




Genotype
MGI:3803328
hm3
Allelic
Composition
Pde6brd1/Pde6brd1
Genetic
Background
CBA/Ki-Pde6brd1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• nascent outer segments and rod cells degenerate rapidly by day 15 after birth and have disappeared by day 35

vision/eye
• nascent outer segments and rod cells degenerate rapidly by day 15 after birth and have disappeared by day 35




Genotype
MGI:3620591
hm4
Allelic
Composition
Pde6brd1/Pde6brd1
Genetic
Background
either: C.Cg-Pde6brd1 or C3.Cg-Pde6brd1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• by P14 a large increase in the number of Muller cells with radial fibers throughout the entire retina including the outer nuclear layer is seen
• by P21 large numbers of Muller cells occur throughout the retina but radial fibers do not have branches in the inner plexiform or nuclear layers
• by P21 the outer nuclear layer consists of only 1 or 2 rows of nuclei
• by P21 thickness of the retina is decreased

nervous system
• by P14 a large increase in the number of Muller cells with radial fibers throughout the entire retina including the outer nuclear layer is seen
• by P21 large numbers of Muller cells occur throughout the retina but radial fibers do not have branches in the inner plexiform or nuclear layers




Genotype
MGI:5544476
hm5
Allelic
Composition
Pde6brd1/Pde6brd1
Genetic
Background
involves: C3H
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• pale at 3.5 weeks of age

vision/eye
• patchy, pigmented appearance at 3.5 weeks of age
• pale at 3.5 weeks of age
• only a single layer of cells is present at 3.5 weeks of age
• degeneration is accelerated compared to mice homozygous for Pde6batrd2
• fail to respond in a visual tracking drum assay at 3.5, 6 and 10 weeks of age
• effectively blind by 3.5 weeks of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
retinitis pigmentosa 40 DOID:0110375 OMIM:613801
J:101336




Genotype
MGI:7266500
hm6
Allelic
Composition
Pde6brd1/Pde6brd1
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• mean venous diameter is decreased in 3- and 12-week-old mice
• mean arterial diameter is decreased in 3- and 12-week-old mice
• 12-week-old mice show thinning of the retinal layer, with a decrease in both the outer and inner retinal cell layer thickness
• however, inner nuclear layer thickness is not different
• total retinal blood flow, rate of oxygen delivery from retinal circulation, and rate of oxygen extraction from the retinal circulation for metabolism are lower, however oxygen extraction fraction is not different
• total retinal blood flow and rate of oxygen delivery from retinal circulation are lower at 3 weeks of age compared to 12 weeks of age

cardiovascular system
• mean venous diameter is decreased in 3- and 12-week-old mice
• mean arterial diameter is decreased in 3- and 12-week-old mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
retinal degeneration DOID:8466 J:322017




Genotype
MGI:2178344
hm7
Allelic
Composition
Pde6brd1/Pde6brd1
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• substantial loss of constriction in response to light

behavior/neurological
• substantial loss of constriction in response to light

nervous system

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital stationary night blindness autosomal dominant 2 DOID:0110863 OMIM:163500
J:24999




Genotype
MGI:3028382
ht8
Allelic
Composition
Pde6brd1-3H/Pde6brd1
Genetic
Background
involves: BALB/cAnN * C3H/HeN
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
Pde6brd1-3H mutation (2 available); any Pde6b mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• rapid onset of degeneration

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital stationary night blindness autosomal dominant 2 DOID:0110863 OMIM:163500
J:75964




Genotype
MGI:3028381
ht9
Allelic
Composition
Pde6brd1-2H/Pde6brd1
Genetic
Background
involves: BALB/cAnN * C3H/HeN
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
Pde6brd1-2H mutation (2 available); any Pde6b mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• rapid onset of degeneration

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital stationary night blindness autosomal dominant 2 DOID:0110863 OMIM:163500
J:75964




Genotype
MGI:3028380
ht10
Allelic
Composition
Pde6brd1-1H/Pde6brd1
Genetic
Background
involves: BALB/cAnN * C3H/HeN
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
Pde6brd1-1H mutation (0 available); any Pde6b mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• rapid onset of degeneration

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital stationary night blindness autosomal dominant 2 DOID:0110863 OMIM:163500
J:75964




Genotype
MGI:3028003
ht11
Allelic
Composition
Pde6batrd3/Pde6brd1
Genetic
Background
involves: BALB/cAnN * C3H/HeN
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6batrd3 mutation (2 available); any Pde6b mutation (101 available)
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• slow onset of degeneration; the visual tracking response persists until several weeks of age in contrast to Pde6brd1 homozygous mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital stationary night blindness autosomal dominant 2 DOID:0110863 OMIM:163500
J:75964




Genotype
MGI:3028002
ht12
Allelic
Composition
Pde6batrd2/Pde6brd1
Genetic
Background
involves: BALB/cAnN * C3H/HeN
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6batrd2 mutation (2 available); any Pde6b mutation (101 available)
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• patches of pigmented cells are seen at 3.5 weeks of age
• progressive loss of cell layers
• slow onset of degeneration; the visual tracking response persists until several weeks of age in contrast to Pde6brd1 homozygous mice (J:75964)
• patches of pigmented cells are seen at 3.5 weeks of age (J:101336)
• at 3.5 weeks of age, no mice respond to a 2 degree grating and 40% respond to a 4 degree grating in a visual tracking drum assay




Genotype
MGI:3027999
ht13
Allelic
Composition
Pde6batrd1/Pde6brd1
Genetic
Background
involves: BALB/cAnN * C3H/HeN
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6batrd1 mutation (2 available); any Pde6b mutation (101 available)
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• patches of pigmented cells are seen at 3.5 weeks of age
• slow onset of degeneration; the visual tracking response persists until several weeks of age in contrast to Pde6brd1 homozygous mice (J:75964)
• at 3.5 weeks of age, no mice respond to a 2 degree grating in a visual tracking drum assay




Genotype
MGI:3028383
ht14
Allelic
Composition
Pde6brd1-4H/Pde6brd1
Genetic
Background
involves: BALB/cAnN * C3H/HeN
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
Pde6brd1-4H mutation (2 available); any Pde6b mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• rapid onset of degeneration

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital stationary night blindness autosomal dominant 2 DOID:0110863 OMIM:163500
J:75964




Genotype
MGI:3817953
ht15
Allelic
Composition
Pde6brd1/Pde6brgsc1754
Genetic
Background
involves: C3H * C57BL/6JJcl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
Pde6brgsc1754 mutation (1 available); any Pde6b mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• at 8 weeks of age, complex heterozygotes for these two mutations exhibit retinal degeneration that ophthalmoscopically resembles that of mice homozygous for Pde6brd1




Genotype
MGI:5817729
cx16
Allelic
Composition
Pde6brd1/Pde6brd1
Prkcqrpea1/Prkcqrpea1
Genetic
Background
ABJ/LeJ-Prkcqrpea1/Boc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
Prkcqrpea1 mutation (2 available); any Prkcq mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• by 6 months of age
• by 6 months of age in all homozygotes
• by one month of age a bilateral star-shaped fundus pattern is visible by indirect ophthalmoscopy due to retinal detachment along retinal blood vessels, and this pattern disappears when the mouse is held upside down
• by 6 months of age in all homozygotes
• by 6 months of age in all homozygotes

nervous system
• by 6 months of age in all homozygotes
• by 6 months of age in all homozygotes




Genotype
MGI:5817742
cx17
Allelic
Composition
Pde6brd1/Pde6brd1
Prkcqrpea1/Prkcqrpea1
Genetic
Background
B6.ABJ-Prkcqrpea1 Pde6brd1/Boc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
Prkcqrpea1 mutation (2 available); any Prkcq mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• by 3 months of age
• indirect ophthalmoscopy shows a bilateral star-shaped fundus pattern by 1 month of age indicative of retinal detachment
• by 1 month of age
• by 3 months of age

nervous system




Genotype
MGI:3803329
cx18
Allelic
Composition
Hps4le/Hps4le
Pde6brd1/Pde6brd1
Genetic
Background
B6.C3-Pde6brd1 Hps4le
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hps4le mutation (3 available); any Hps4 mutation (20 available)
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• mice exhibit a normal proportion of bipolar cells to Muller cells during postnatal development

craniofacial
• mice exhibit light ears

hearing/vestibular/ear
• mice exhibit light ears

pigmentation
• mice exhibit light ears

integument
• mice exhibit light ears

growth/size/body
• mice exhibit light ears




Genotype
MGI:5700318
cx19
Allelic
Composition
Hps4le/Hps4le
Pde6brd1/Pde6brd1
Genetic
Background
B6.C3-Pde6brd1 Hps4le/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hps4le mutation (3 available); any Hps4 mutation (20 available)
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• platelets show impaired alpha granule content release in response to low-dose thrombin stimulation
• agonist-dependent lysosome release in platelets is impaired
• stimulation with a low dose of thrombin elicits a mutated release of lysosomal enzymes from platelets
• mice exhibit abnormal thrombus formation during laser-induced blood vessel damage, with total platelet accumulation severely attenuated

homeostasis/metabolism
• platelets show impaired alpha granule content release in response to low-dose thrombin stimulation
• agonist-dependent lysosome release in platelets is impaired
• stimulation with a low dose of thrombin elicits a mutated release of lysosomal enzymes from platelets
• mice exhibit abnormal thrombus formation during laser-induced blood vessel damage, with total platelet accumulation severely attenuated

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Hermansky-Pudlak syndrome 4 DOID:0060542 OMIM:614073
J:221384




Genotype
MGI:5897205
cx20
Allelic
Composition
Opn4tm1Skay/Opn4tm1Skay
Pde6brd1/Pde6brd1
Genetic
Background
B6.Cg-Pde6brd1 Opn4tm1Skay
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Opn4tm1Skay mutation (0 available); any Opn4 mutation (26 available)
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• retinas exhibit normal photoentrainment to white light, photosensitivity to violet light and corneal photoentrainment




Genotype
MGI:3620592
cx21
Allelic
Composition
Pde6brd1/Pde6brd1
Prph2Rd2/Prph2Rd2
Genetic
Background
either: C.Cg-Pde6brd1 Prph2Rd2 or C3.Cg-Pde6brd1 Prph2Rd2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
Prph2Rd2 mutation (3 available); any Prph2 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• increase in density of Muller cells and fibers is intermediate compared to the single homozygotes
• remaining photoreceptor cells lack outer segments
• the rate of photoreceptor loss is slower than in Pde6brd1 single homozygotes

nervous system
• increase in density of Muller cells and fibers is intermediate compared to the single homozygotes
• remaining photoreceptor cells lack outer segments
• the rate of photoreceptor loss is slower than in Pde6brd1 single homozygotes




Genotype
MGI:3046197
cx22
Allelic
Composition
Pde6brd1/Pde6brd1
Rhotm2(RHO/GFP)Jhw/Rho+
Genetic
Background
either: (involves: 129S7/SvEvBrd * C57BL/6J * FVB) or (involves: 129S7/SvEvBrd * C57BL/6-Tyrc * FVB)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
Rhotm2(RHO/GFP)Jhw mutation (0 available); any Rho mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• retinas begin to degenerate within 9 days after birth
• GFP expression can clearly be seen as the retinas degenerate




Genotype
MGI:3814999
cx23
Allelic
Composition
Pde6brd1/Pde6brd1
Pde6gtm1Goff/Pde6gtm1Goff
Genetic
Background
either: (involves: 129S/SvEv * C57BL/6 * MF1 * Swiss Webster) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * MF1 * Swiss Webster)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
Pde6gtm1Goff mutation (0 available); any Pde6g mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• mice exhibit a degeneration of the photoreceptor layer similar to in Pde6gtm1Goff or Pde6brd1 homozygotes
• mice exhibit diminished a and b wave components compared to wild type mice with a delay in the b wave implicit time
• diminished eye electrophysiological response worsens with age




Genotype
MGI:3789957
cx24
Allelic
Composition
Cry1tm1Asn/Cry1tm1Asn
Pde6brd1/Pde6brd1
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cry1tm1Asn mutation (1 available); any Cry1 mutation (26 available)
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• substantial loss of constriction in response to light
• response is similar to that in mice homozygous for Pde6brd1 alone

behavior/neurological
• substantial loss of constriction in response to light
• response is similar to that in mice homozygous for Pde6brd1 alone




Genotype
MGI:3789958
cx25
Allelic
Composition
Cry2tm1Asn/Cry2tm1Asn
Pde6brd1/Pde6brd1
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cry2tm1Asn mutation (1 available); any Cry2 mutation (23 available)
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• substantial loss of constriction in response to light
• response is similar to that in mice homozygous for Pde6brd1 alone

behavior/neurological
• substantial loss of constriction in response to light
• response is similar to that in mice homozygous for Pde6brd1 alone




Genotype
MGI:2451102
cx26
Allelic
Composition
Cry1tm1Asn/Cry1tm1Asn
Cry2tm1Asn/Cry2tm1Asn
Pde6brd1/Pde6brd1
Genetic
Background
involves: 129P2/OlaHsd * C3H/HeJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cry1tm1Asn mutation (1 available); any Cry1 mutation (26 available)
Cry2tm1Asn mutation (1 available); any Cry2 mutation (23 available)
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Retinal degeneration in Pde6brd1/Pde6brd1, and Pde6brd1/Pde6brd1 Cry1tm1Asn/Cry1tm1Asn Cry2tm1Asn/Cry2tm1Asn mouse retinas

behavior/neurological
• almost no pupillary reflex in blue light (470-nm)
• some pupillary movement in very bright light, but sluggish
• sensitivity to blue light is about 5% that of mice homozygous for Pde6brd1 only
• arrhythmic circadian rhythms for locomotor activity in constant darkness
• arrhythmic circadian rhythms for locomotor activity in light/dark cycles
• mutants accumulate nearly 40% of their total daily activity during the first 10 hours of the light portion of light-dark 12:12 compared with only 10% of activity during this same period seen with controls, indicating a residual photoresponsiveness in mutants

vision/eye
• almost no pupillary reflex in blue light (470-nm)
• some pupillary movement in very bright light, but sluggish
• sensitivity to blue light is about 5% that of mice homozygous for Pde6brd1 only
• most cones are absent
• nearly complete absence of the outer nuclear layer
• the entire outer retina is destroyed, however the inner retina remains intact

nervous system
• most cones are absent




Genotype
MGI:3604192
cx27
Allelic
Composition
Casp3tm1Flv/Casp3tm1Flv
Pde6brd1/Pde6brd1
Genetic
Background
involves: 129S1 * C3H/FeJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Casp3tm1Flv mutation (1 available); any Casp3 mutation (26 available)
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• loss of 60% to 90% of rod population despite the absence of CASP3
• outer nuclear layer slightly thicker than with normal CASP3 expression

cellular
• slight reduction in rate of loss of photoreceptors relative to rd1 homozygotes with normal CASP3 expression

nervous system
• loss of 60% to 90% of rod population despite the absence of CASP3




Genotype
MGI:3803117
cx28
Allelic
Composition
Opn4tm1Skay/Opn4tm1Skay
Pde6brd1/Pde6brd1
Genetic
Background
involves: 129S1/SvImJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Opn4tm1Skay mutation (0 available); any Opn4 mutation (26 available)
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• pupilary reflex is abolished
• mice lose their ability to photo-entrain their circadian rhythm and mice maintain equal activity during light and dark phases unlike in wild-type mice

vision/eye
• pupilary reflex is abolished




Genotype
MGI:2451250
cx29
Allelic
Composition
Cacnb2tm1Rgg/Cacnb2tm1Rgg
Pde6brd1/Pde6brd1
Tg(Myh6-Cacnb2)1Rgg/0
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacnb2tm1Rgg mutation (0 available); any Cacnb2 mutation (35 available)
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
Tg(Myh6-Cacnb2)1Rgg mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• progressive loss of photoreceptor cell bodies
• increased apoptotic cell death at 21 days of age
• degeneration of photoreceptors occurs but is delayed at P16, P18, and P21 compared to homozygous Pde6b mutants
• progressive thinning of the outer nuclear layer
• the OPL appears disorganized
• the OPL appears thinner than wild-type and other controls
• mutant mice show decreased sensitivity to light
• the b-wave of mutant mice is reduced in amplitude at all flash intensities; the a-wave appears similar to controls
• cone ERGs of mutant mice are smaller in amplitude and negative in polarity

nervous system
• progressive loss of photoreceptor cell bodies
• increased apoptotic cell death at 21 days of age
• degeneration of photoreceptors occurs but is delayed at P16, P18, and P21 compared to homozygous Pde6b mutants




Genotype
MGI:3803331
cx30
Allelic
Composition
Pde6brd1/Pde6brd1
Prph2Rd2/Prph2Rd2
Genetic
Background
involves: C3Hf/HeA * C57BL/LiA * O20/A
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
Prph2Rd2 mutation (3 available); any Prph2 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• mice exhibit a lesser degeneration than in Pde6brd1 homozygotes




Genotype
MGI:3767983
cx31
Allelic
Composition
Pde6brd1/Pde6brd1
Tg(OPN1LW-DT)1Mame/?
Genetic
Background
involves: C3H/He * C57BL/6 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
Tg(OPN1LW-DT)1Mame mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• the outer retina is lost
• however, melanopsin-containing cells are present and normally distributed
• mice lack immunoreactivity for any of the three photoreceptor types
• transneuronal degeneration results in thinning and regional loss of the inner nuclear layer (INL)
• by 9 months of age only the retinal ganglion layer could be detected in many areas
• the INL never reaches more than 3 to 4 cells deep compared to wild-type INL that are 6 cells deep
• mice lack an outer nuclear layer

behavior/neurological
N
• despite the lack of ability to detect light in their retina, mice maintain normal circadian rhythms (J:128149)
• despite the lack of ability to detect light in their retina, mice maintain normal circadian rhythms (J:128478)

nervous system
• mice lack immunoreactivity for any of the three photoreceptor types




Genotype
MGI:5694631
cx32
Allelic
Composition
Pde6brd1/Pde6brd1
Tg(OPN1LW-DT)1Mame/?
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6brd1 mutation (41 available); any Pde6b mutation (101 available)
Tg(OPN1LW-DT)1Mame mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• mice lacking both functional rods and cones are trained to distinguish a bright signal from a dark signal using a water maze
• mice distinguish between targets differing by as little as 13X in radiance





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last database update
01/24/2023
MGI 6.22
The Jackson Laboratory