Phenotypes Associated with This Genotype

Genotype
MGI:3589472

• Allelic Composition: Col8a1^tm1Bjro/Col8a1^tm1Bjro; Col8a2^tm1Bjro/Col8a2^tm1Bjro
• Genetic Background: B6.129S4-Col8a2^tm1Bjro Col8a1^tm1Bjro

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

vision/eye

abnormal anterior eye segment morphology ( J:100136 )

• dysgenesis of the anterior segment of the eye

abnormal Descemet membrane morphology ( J:100136 )

• banded structures within the Descemet's membrane are completely absent

decreased Descemet membrane thickness ( J:100136 )

• Descemet's membrane is markedly thinner

abnormal cornea endothelium morphology ( J:100136 )

• corneal endothelial cells are enlarged and decreased in number and show a decreased ability to proliferate in response to different growth factors in vitro

decreased cornea thickness ( J:100136 )

decreased cornea stroma thickness ( J:100136 )

• 21.5% reduction in stroma thickness

abnormal eye anterior chamber morphology ( J:100136 )

• globoid, keratoglobus-like protrusion of the anterior chamber

increased eye anterior chamber depth ( J:100136 )

• increased depth of the anterior chamber (392 um vs. 223 um in controls)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	Fuchs' endothelial dystrophy	DOID:11555	OMIM:136800 OMIM:610158 OMIM:613267 OMIM:613268 OMIM:613269 OMIM:613270 OMIM:613271 OMIM:615523	J:100136