All Phenotypes Cep290<rd16> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cep290^rd16/Cep290^rd16	BXD24/TyJ-Cep290^rd16/J	MGI:3629046
hm2	Cep290^rd16/Cep290^rd16	involves: BXD24/TyJ	MGI:5557989
hm3	Cep290^rd16/Cep290^rd16	involves: BXD24/TyJ * C57BL/6	MGI:5557979
cx4	Cep290^rd16/Cep290^rd16 Nrl^tm1Asw/Nrl^tm1Asw	involves: 129S1/Sv * 129X1/SvJ * BXD24/TyJ * C57BL/6	MGI:5557980
cx5	Cep290^rd16/Cep290⁺ Spata7^tm1Mrd/Spata7^tm1Mrd	involves: 129S7/SvEvBrd * BXD24/TyJ * C57BL/6J	MGI:6386196

Allelic Composition	Cep290^rd16/Cep290^rd16
Genetic Background	BXD24/TyJ-Cep290^rd16/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cep290^rd16 mutation (1 available); any Cep290 mutation (124 available)

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

vision/eye

photoreceptor outer segment degeneration ( J:108467 )

• degeneration of outer segments in homozygotes is detected as early as 19 days of age and progresses as mice age

abnormal retina pigment epithelium morphology ( J:108467 )

• large pigment patches appear at 2 months of age

thin retina outer nuclear layer ( J:108467 )

• reduction in thickness of outer nuclear layer in homozygotes is detected as early as 19 days of age and progresses as mice age

retina degeneration ( J:108467 )

• detectable at 1 and 2 months of age

retina spots ( J:108467 )

• retinae of homozygotes develops white retinal vessels at 1 month of age

abnormal cone electrophysiology ( J:108467 )

• electoretinograms indicate considerable deterioration of function in homozygotes compared to wild-type by 18 days of age; at 4 weeks of age, there is essentially no response

abnormal rod electrophysiology ( J:108467 )

• electoretinograms indicate considerable deterioration of function in homozygotes compared to wild-type by 18 days of age; at 4 weeks of age, there is essentially no response

pigmentation

abnormal retina pigment epithelium morphology ( J:108467 )

• large pigment patches appear at 2 months of age

nervous system

photoreceptor outer segment degeneration ( J:108467 )

• degeneration of outer segments in homozygotes is detected as early as 19 days of age and progresses as mice age

Allelic Composition	Cep290^rd16/Cep290^rd16
Genetic Background	involves: BXD24/TyJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cep290^rd16 mutation (1 available); any Cep290 mutation (124 available)

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

cellular

abnormal cilium morphology ( J:204004 )

• primary dermal fibroblasts in culture are deficient in primary cilium formation, with about 50% fewer cells forming cilia than in wild-type cells

• cilia produced by dermal fibroblasts are more than 25% shorter than in wild-type cells

taste/olfaction

abnormal olfactory epithelium morphology ( J:125553 )

• some regions of the olfactory epithelium show signs of dendritic microtubule disorganization

• however, olfactory cilia and dendritic knobs are unaltered and the cilia layer is intact in the olfactory epithelium

anosmia ( J:125553 )

• at all doses of odorant testing, mice show reduced electro-olfactogram responses at 1 month of age, indicating anosmia

craniofacial

abnormal olfactory epithelium morphology ( J:125553 )

• some regions of the olfactory epithelium show signs of dendritic microtubule disorganization

• however, olfactory cilia and dendritic knobs are unaltered and the cilia layer is intact in the olfactory epithelium

respiratory system

abnormal olfactory epithelium morphology ( J:125553 )

• some regions of the olfactory epithelium show signs of dendritic microtubule disorganization

• however, olfactory cilia and dendritic knobs are unaltered and the cilia layer is intact in the olfactory epithelium

growth/size/body

abnormal olfactory epithelium morphology ( J:125553 )

• some regions of the olfactory epithelium show signs of dendritic microtubule disorganization

• however, olfactory cilia and dendritic knobs are unaltered and the cilia layer is intact in the olfactory epithelium

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 10		DOID:0110291	OMIM:611755	J:125553

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

vision/eye

abnormal retina photoreceptor morphology ( J:169232 )

• ciliary axoneme is reduced or absent, however the connecting cilium is intact and positioned appropriately

photoreceptor inner segment degeneration ( J:169232 )

• almost complete loss of inner segment and outer segment at P18, with only a single row of outer nuclear layer nuclei remaining at P28

abnormal photoreceptor outer segment morphology ( J:169232 )

• stacks of outer segments are formed but do not organize into the extended vertical arrays

short photoreceptor outer segment ( J:169232 )

• early photoreceptor development occurs normally and all layers of the retina are present at P10 and P12, however, by P14, outer segment elongation is stalled and begins to regress

photoreceptor outer segment degeneration ( J:169232 )

• almost complete loss of inner segment and outer segment at P18, with only a single row of outer nuclear layer nuclei remaining at P28

retina photoreceptor degeneration ( J:169232 )

retina cone cell degeneration ( J:169232 )

• mice only show a single row of cone nuclei remaining after rod degeneration

retina rod cell degeneration ( J:169232 )

• complete degeneration by P28

thin retina outer nuclear layer ( J:169232 )

• pyknotic photoreceptor nuclei start to appear at P14 in the outer nuclear layer which starts to thin

abnormal cone electrophysiology ( J:169232 )

• mice show minimal S- and M-cone-mediated electroretinography responses that are near recording noise level and are smaller than wild-type responses

nervous system

abnormal retina photoreceptor morphology ( J:169232 )

• ciliary axoneme is reduced or absent, however the connecting cilium is intact and positioned appropriately

photoreceptor inner segment degeneration ( J:169232 )

• almost complete loss of inner segment and outer segment at P18, with only a single row of outer nuclear layer nuclei remaining at P28

abnormal photoreceptor outer segment morphology ( J:169232 )

• stacks of outer segments are formed but do not organize into the extended vertical arrays

short photoreceptor outer segment ( J:169232 )

• early photoreceptor development occurs normally and all layers of the retina are present at P10 and P12, however, by P14, outer segment elongation is stalled and begins to regress

photoreceptor outer segment degeneration ( J:169232 )

• almost complete loss of inner segment and outer segment at P18, with only a single row of outer nuclear layer nuclei remaining at P28

retina photoreceptor degeneration ( J:169232 )

retina cone cell degeneration ( J:169232 )

• mice only show a single row of cone nuclei remaining after rod degeneration

retina rod cell degeneration ( J:169232 )

• complete degeneration by P28

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 10		DOID:0110291	OMIM:611755	J:169232

Allelic Composition	Cep290^rd16/Cep290^rd16 Nrl^tm1Asw/Nrl^tm1Asw
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * BXD24/TyJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cep290^rd16 mutation (1 available); any Cep290 mutation (124 available)
Nrl^tm1Asw mutation (1 available); any Nrl mutation (18 available)

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

vision/eye

retina photoreceptor degeneration ( J:169232 )

• mice show degeneration of photoreceptors, with rapid loss of rods, however survival of cone photoreceptors is increased compared to single Cep290 mutants, showing 4-5 rows of outer nuclear layer nuclei at 3-4 months of age, indicating a much slower cone degeneration than in single mutants and an all-cone retina in mutants

abnormal cone electrophysiology ( J:169232 )

• mice show sizeable S- and M-cone-driven ERG signals although the amplitudes are reduced compared to single Nrl homozygotes

nervous system

retina photoreceptor degeneration ( J:169232 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 10		DOID:0110291	OMIM:611755	J:169232

Allelic Composition	Cep290^rd16/Cep290⁺ Spata7^tm1Mrd/Spata7^tm1Mrd
Genetic Background	involves: 129S7/SvEvBrd * BXD24/TyJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cep290^rd16 mutation (1 available); any Cep290 mutation (124 available)
Spata7^tm1Mrd mutation (1 available); any Spata7 mutation (27 available)

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

nervous system

retina photoreceptor degeneration ( J:264617 )

• severe as early as P20 that is more severe than in Spata7^tm1Mrd homozygotes

vision/eye

retina photoreceptor degeneration ( J:264617 )

• severe as early as P20 that is more severe than in Spata7^tm1Mrd homozygotes

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