Phenotypes associated with this allele

• Allele Symbol: Tcm
• Allele Name: total cataract with microphthalmia
• Allele ID: MGI:1861626
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tcm/Tcm	involves: 101 * 102 * C3H	MGI:3589573
hm2	Tcm/Tcm	involves: 101 * C3H	MGI:2174764
ht3	Tcm/Tcm^+	involves: 101 * C3H	MGI:2174765

Genotype
MGI:3589573

hm1

• Allelic Composition: Tcm/Tcm
• Genetic Background: involves: 101 * 102 * C3H

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

Histopathology of wild type and Tcm/Tcm embryonic eye development

vision/eye

abnormal lens morphology ( J:100636 )

• during E14.5-17.5, the lens begins to degenerate

small lens ( J:100636 )

• the lens is well developed at E13.5 but is smaller

abnormal eye development ( J:100636 )

• at E13.5, homozygotes show a failure in ventral patterning of the optic cup with a complete loss of ventral eye structures; the dorsal retina is well developed at this stage

abnormal lens vesicle development ( J:100636 )

• delay in lens vesicle formation at E10.5

abnormal optic cup morphology ( J:100636 )

• delay in optic cup formation at E10.5

• at E13.5, homozygotes show a failure in ventral patterning of the optic cup

abnormal optic stalk morphology ( J:100636 )

• the optic stalk remains patent and is lined with embryonic retinal cells.

microphthalmia ( J:100636 )

• severe in embryos and newborns

abnormal retina morphology ( J:100636 )

• retinal dysplasia, especially ventrally, is seen by E11.5 and continues after birth

• during E14.5-17.5, the dorsal retinal structures become dysplastic

abnormal retina layer morphology ( J:100636 )

• the normally close relationship between the neural retina and the retinal pigment epithelium (RPE) is disrupted

anophthalmia ( J:100636 )

• adults are anophthalmic

Genotype
MGI:2174764

hm2

• Allelic Composition: Tcm/Tcm
• Genetic Background: involves: 101 * C3H

vision/eye

abnormal iris morphology ( J:9528 )

• dysplasia

small pupil ( J:9528 )

abnormal lens morphology ( J:9528 )

• dysplasia

cataract ( J:9528 )

microphthalmia ( J:9528 )

Genotype
MGI:2174765

ht3

• Allelic Composition: Tcm/Tcm⁺
• Genetic Background: involves: 101 * C3H

vision/eye

abnormal iris morphology ( J:9528 )

• dysplasia

small pupil ( J:9528 )

abnormal lens morphology ( J:9528 )

• dysplasia

total cataract ( J:9528 )

• total opacity of the lens

microphthalmia ( J:9528 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cataract		DOID:83	OMIM:601371 OMIM:PS116200	J:9528