All Phenotypes Pde6a<nmf282> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pde6a^nmf282/Pde6a^nmf282	A.B6 Tyr⁺-Pde6a^nmf282/J	MGI:3611315
hm2	Pde6a^nmf282/Pde6a^nmf282	involves: A/J * C57BL/6J	MGI:3828993
ht3	Pde6a^nmf282/Pde6a^nmf363	involves: A/J * C57BL/6J	MGI:3828995
ht4	Pde6a^nmf282/Pde6a^tvrm58	involves: A/J * C57BL/6J	MGI:5609969
cx5	Pde6a^nmf282/Pde6a⁺ Pde6b^rd1-2J/Pde6b⁺	involves: A/J * C57BL/6J	MGI:3828996

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

vision/eye

abnormal ocular fundus morphology ( J:142108 )

• mice exhibit grainy fundus unlike in wild-type mice

decreased retina photoreceptor cell number ( J:142108 )

• by P21, nearly all photoreceptors are gone

short photoreceptor inner segment ( J:142108 )

• at P14, the inner segment is reduced to 50% of wild-type

absent photoreceptor outer segment ( J:142108 )

• at P14

short photoreceptor outer segment ( J:142108 )

• at P12, the outer segment is reduced in thickness by 50% compared to in wild-type mice

retina photoreceptor degeneration ( J:142108 )

• at P12, photoreceptor degeneration is observed

• dark-rearing does not slows the progression of photoreceptor degeneration

thin retina outer nuclear layer ( J:142108 )

• at P12, the outer nuclear layer is reduced 20% compared to in wild-type mice

• at P14, the outer nuclear layer is reduced 50% compared to in wild-type mice

retina degeneration ( J:87349 )

• standard pathology examination of two mutant mice (aged 214 and 443 days) revealed severe retinal degeneration

retina spots ( J:87349 )

• routine ophthalmoscopic examination of 12 week old homozygous mice revealed retinal spots

abnormal electroretinogram waveform feature ( J:142108 )

• by P14, electroretinogram activity is absent

nervous system

brain vacuoles ( J:87349 )

• standard pathology examination of a 443 day old mutant mouse revealed vacuolation of the brain

decreased retina photoreceptor cell number ( J:142108 )

• by P21, nearly all photoreceptors are gone

short photoreceptor inner segment ( J:142108 )

• at P14, the inner segment is reduced to 50% of wild-type

absent photoreceptor outer segment ( J:142108 )

• at P14

short photoreceptor outer segment ( J:142108 )

• at P12, the outer segment is reduced in thickness by 50% compared to in wild-type mice

retina photoreceptor degeneration ( J:142108 )

• at P12, photoreceptor degeneration is observed

• dark-rearing does not slows the progression of photoreceptor degeneration

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa		DOID:10584	OMIM:PS268000	J:142108

Allelic Composition	Pde6a^nmf282/Pde6a^nmf282
Genetic Background	involves: A/J * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6a^nmf282 mutation (1 available); any Pde6a mutation (52 available)

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

vision/eye

decreased retina photoreceptor cell number ( J:142108 )

• Background Sensitivity: mice on a mixed background are not protected from photoreceptor loss

short photoreceptor outer segment ( J:142108 )

retina photoreceptor degeneration ( J:142108 )

• at P14

thin retina outer nuclear layer ( J:142108 )

nervous system

decreased retina photoreceptor cell number ( J:142108 )

• Background Sensitivity: mice on a mixed background are not protected from photoreceptor loss

short photoreceptor outer segment ( J:142108 )

retina photoreceptor degeneration ( J:142108 )

• at P14

Allelic Composition	Pde6a^nmf282/Pde6a^nmf363
Genetic Background	involves: A/J * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6a^nmf282 mutation (1 available); any Pde6a mutation (52 available)
Pde6a^nmf363 mutation (0 available); any Pde6a mutation (52 available)

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

vision/eye

short photoreceptor outer segment ( J:142108 )

• reduced thickness is intermediate to that observed in homozygote of either parental alleles

retina photoreceptor degeneration ( J:142108 )

• at P14

thin retina outer nuclear layer ( J:142108 )

• reduced thickness is intermediate to that observed in homozygote of either parental alleles

nervous system

short photoreceptor outer segment ( J:142108 )

• reduced thickness is intermediate to that observed in homozygote of either parental alleles

retina photoreceptor degeneration ( J:142108 )

• at P14

Allelic Composition	Pde6a^nmf282/Pde6a^tvrm58
Genetic Background	involves: A/J * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6a^nmf282 mutation (1 available); any Pde6a mutation (52 available)
Pde6a^tvrm58 mutation (1 available); any Pde6a mutation (52 available)

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

vision/eye

retina degeneration ( J:214072 )

• severe

Allelic Composition	Pde6a^nmf282/Pde6a⁺ Pde6b^rd1-2J/Pde6b⁺
Genetic Background	involves: A/J * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6a^nmf282 mutation (1 available); any Pde6a mutation (52 available)
Pde6b^rd1-2J mutation (1 available); any Pde6b mutation (119 available)

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

vision/eye

vision/eye phenotype ( J:142108 )

N	• a and b wave response is normal at 5 to 6 months of age

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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