Phenotypes Associated with This Genotype

Genotype
MGI:5473606

• Allelic Composition: Frem1^eyes2/Frem1^eyes2
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:192553 )

• fewer than expected mice are present at P28

vision/eye

abnormal eye morphology ( J:192553 )

• in 18 of 32 mice

microphthalmia ( J:192553 )

• unilateral and bilateral

cryptophthalmos ( J:192553 )

muscle

abnormal diaphragm development ( J:192553 )

• reduced cell proliferation in the mid-diaphragm at E14.5

• however, thickness is normal

diaphragmatic hernia ( J:192553 )

• in the anterior midline directly behind the sternum 15 of 32 mice

renal/urinary system

single kidney ( J:192553 )

• in 5 of 32 mice

liver/biliary system

abnormal gallbladder morphology ( J:192553 )

• sometimes fused to the membranous sac covering the herniated viscera

digestive/alimentary system

rectal prolapse ( J:192553 )

• in some mice

endocrine/exocrine glands

abnormal gallbladder morphology ( J:192553 )

• sometimes fused to the membranous sac covering the herniated viscera

respiratory system

fused right lung lobes ( J:200175 )

• the cranial, medial, and caudal lobes of the right lung are partially or completely fused in 11/39 affected mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital diaphragmatic hernia		DOID:3827	OMIM:142340 OMIM:222400 OMIM:610187	J:192553