All Phenotypes Col8a1<tm1Bjro> MGI Mouse

Phenotypes associated with this allele

Allelic Composition	Col8a1^tm1Bjro/Col8a1^tm1Bjro
Genetic Background	B6.129S4-Col8a1^tm1Bjro

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col8a1^tm1Bjro mutation (0 available); any Col8a1 mutation (21 available)

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

vision/eye

decreased Descemet membrane thickness ( J:100136 )

• Descemet's membrane is thinner

decreased cornea stroma thickness ( J:100136 )

• 12.3% reduction in stroma thickness

increased eye anterior chamber depth ( J:100136 )

• increased depth of the anterior chamber (324 um vs. 223 um in controls)

♀	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

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24