All Phenotypes Crx<tm1Clc> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Crx^tm1Clc/Crx^tm1Clc	involves: 129S6/SvEvTac	MGI:3697471
hm2	Crx^tm1Clc/Crx^tm1Clc	involves: 129S6/SvEvTac * C57BL/6J	MGI:5526864
ht3	Crx^tm1Clc/Crx⁺	involves: 129S6/SvEvTac	MGI:3697472
cx4	Crx^tm1Clc/Crx^tm1Clc Mef2d^tm1.2Tfur/Mef2d^tm1.2Tfur	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:5775154

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

Outer retina microscopy of Crx^tm1Clc/Crx^tm1Clc mice

vision/eye

vision/eye phenotype ( J:211011 )

N	• normal lamellar formation of the retina at 14 days of age

abnormal retina morphology ( J:58796 )

abnormal retina bipolar cell morphology ( J:88825 )

abnormal retina cone bipolar cell morphology ( J:88825 )

• dendritic trees begin retracting around 5 months

• axons remain normal

abnormal retina rod bipolar cell morphology ( J:88825 )

• very small in size relative to controls at 7 months of age

• distinctly smaller axons at 1 to 3 months of age

• dendritic arborization is retracted from outer plexiform layer at 1 to 3 months of age and almost completely retracted by 7 months

abnormal retina horizontal cell morphology ( J:88825 )

• increased concentration and size of horizontal cell neurites which originate from axons

abnormal retina layer morphology ( J:211011 )

thin retina outer nuclear layer ( J:58796 , J:88825 )

• thin at 3 weeks of age (J:58796)

• 1-3 rows of nuclei at 6 months of age (J:58796)

• 12 rows at 1 month of age (J:88825)

• only 1 row centrally at 7 months of age but 2 rows more peripherally (J:88825)

retina outer nuclear layer degeneration ( J:211011 )

• loss of outer layer nuclei starting around 1 month

• only 7-9 rows at 1 month compared to about 12 rows in controls

• 2-3 rows at 3 months

• apoptosis at 21 and 35 days of age

abnormal retina outer plexiform layer morphology ( J:95886 )

• photoreceptor terminals are highly disorganized with no well formed rod spherules or cone pedicles

abnormal retina photoreceptor layer morphology ( J:58796 )

abnormal retina photoreceptor morphology ( J:58796 )

• photoreceptor cells dislocated to just beneath pigment epithelium

abnormal photoreceptor inner segment morphology ( J:95886 )

• very rarely do connecting cilia emerge from the inner segment by 7 days of age

• connecting cilia are unusually long at later stages

abnormal photoreceptor outer segment morphology ( J:95886 )

• numerous small vesicles are present, possibly derived from the inner segment

• abnormal structures occasionally seen attached to connecting cilia may be malformed outer segments

absent photoreceptor outer segment ( J:58796 , J:211011 )

• at 2 to 3 weeks of age (J:58796)

• no outer segment formation at 14 days through 3 months (J:211011)

abnormal electroretinogram waveform feature ( J:211011 )

• no light or dark adapted responses

abnormal eye electrophysiology ( J:58796 )

abnormal cone electrophysiology ( J:58796 )

• no electroretinogram activity at 1 month of age

• greater than 90% reduction in activity

abnormal rod electrophysiology ( J:58796 )

• less than 1% of normal rod activity at 1 month of age

• "a" and "b" waves in electroretinogram are absent

behavior/neurological

abnormal circadian behavior ( J:58796 )

• although mice continue to be predominantly dark active, dark cycle activity is reduced

delayed circadian behavior phase ( J:58796 )

• photoentrainment is slower than in controls after a 4 hour advance in the light-dark cycle

nervous system

abnormal retina bipolar cell morphology ( J:88825 )

abnormal retina cone bipolar cell morphology ( J:88825 )

• dendritic trees begin retracting around 5 months

• axons remain normal

abnormal retina rod bipolar cell morphology ( J:88825 )

• very small in size relative to controls at 7 months of age

• distinctly smaller axons at 1 to 3 months of age

• dendritic arborization is retracted from outer plexiform layer at 1 to 3 months of age and almost completely retracted by 7 months

abnormal retina horizontal cell morphology ( J:88825 )

• increased concentration and size of horizontal cell neurites which originate from axons

abnormal retina photoreceptor morphology ( J:58796 )

• photoreceptor cells dislocated to just beneath pigment epithelium

abnormal photoreceptor inner segment morphology ( J:95886 )

• very rarely do connecting cilia emerge from the inner segment by 7 days of age

• connecting cilia are unusually long at later stages

abnormal photoreceptor outer segment morphology ( J:95886 )

• numerous small vesicles are present, possibly derived from the inner segment

• abnormal structures occasionally seen attached to connecting cilia may be malformed outer segments

absent photoreceptor outer segment ( J:58796 , J:211011 )

• at 2 to 3 weeks of age (J:58796)

• no outer segment formation at 14 days through 3 months (J:211011)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 7		DOID:0110333	OMIM:613829	J:58796

Allelic Composition	Crx^tm1Clc/Crx^tm1Clc
Genetic Background	involves: 129S6/SvEvTac * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crx^tm1Clc mutation (2 available); any Crx mutation (26 available)

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

Photoreceptor abnormalities in Crx^Rip/Crx⁺, Crx^Rip/Crx^Rip, and Crx^tm1Clc/Crx^tm1Clc retinas

vision/eye

abnormal retina photoreceptor layer morphology ( J:203337 )

• rapid degeneration of the photoreceptor layer between 5 and 10 weeks

Allelic Composition	Crx^tm1Clc/Crx⁺
Genetic Background	involves: 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crx^tm1Clc mutation (2 available); any Crx mutation (26 available)

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

vision/eye

abnormal retina morphology ( J:58796 )

• although abnormalities are seen at earlier ages, the retina is normal by 3 months of age

abnormal photoreceptor outer segment morphology ( J:58796 )

• shorter at 2 weeks of age but normal at 3 weeks

thin retina outer nuclear layer ( J:58796 )

• 8-10 rows of nuclei at 2 months of age as compared to 14-16 in controls

nervous system

abnormal photoreceptor outer segment morphology ( J:58796 )

• shorter at 2 weeks of age but normal at 3 weeks

Allelic Composition	Crx^tm1Clc/Crx^tm1Clc Mef2d^tm1.2Tfur/Mef2d^tm1.2Tfur
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crx^tm1Clc mutation (2 available); any Crx mutation (26 available)
Mef2d^tm1.2Tfur mutation (1 available); any Mef2d mutation (64 available)

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

vision/eye

abnormal retina bipolar cell morphology ( J:230346 )

• severe impairment in bipolar cell maturation

abnormal retina photoreceptor morphology ( J:230346 )

• severe impairment in photoreceptor maturation

absent photoreceptor inner segment ( J:230346 )

• complete loss of inner segment formation at P21

abnormal retina outer plexiform layer morphology ( J:230346 )

• more severe abnormality of synaptic morphology in the OPL than that seen in either single homozygote at P21

nervous system

abnormal retina bipolar cell morphology ( J:230346 )

• severe impairment in bipolar cell maturation

abnormal retina photoreceptor morphology ( J:230346 )

• severe impairment in photoreceptor maturation

absent photoreceptor inner segment ( J:230346 )

• complete loss of inner segment formation at P21

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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