Phenotypes Associated with This Genotype

Genotype
MGI:5056093

• Allelic Composition: Smoc1^{tm1a(EUCOMM)Wtsi}/Smoc1^{tm1a(EUCOMM)Wtsi}
• Genetic Background: C57BL/6N-Smoc1^{tm1a(EUCOMM)Wtsi}

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

Ophthalmo-acromelic-like phenotype in Smoc1^{tm1a(EUCOMM)Wtsi}/Smoc1^{tm1a(EUCOMM)Wtsi} mice

mortality/aging

neonatal lethality, complete penetrance ( J:174198 )

• all mice die at or soon after birth

vision/eye

optic nerve hypoplasia ( J:174198 )

• reduced diameter

abnormal retina pigment epithelium morphology ( J:174198 )

• the retinal pigmented epithelium extends into the optic nerve unlike in wild-type mice

iris coloboma ( J:174198 )

• in 56% of mice

retina coloboma ( J:174198 )

• in 56% of mice

limbs/digits/tail

syndactyly ( J:174198 )

• osseous syndactyly

absent fibula ( J:174198 )

growth/size/body

cleft palate ( J:174198 )

• in 4 of 12 mice

decreased embryo size ( J:174198 )

decreased body size ( J:174198 )

• in neonates

craniofacial

cleft palate ( J:174198 )

• in 4 of 12 mice

nervous system

optic nerve hypoplasia ( J:174198 )

• reduced diameter

digestive/alimentary system

cleft palate ( J:174198 )

• in 4 of 12 mice

embryo

decreased embryo size ( J:174198 )

skeleton

absent fibula ( J:174198 )

pigmentation

abnormal retina pigment epithelium morphology ( J:174198 )

• the retinal pigmented epithelium extends into the optic nerve unlike in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
microphthalmia with limb anomalies		DOID:0060861	OMIM:206920	J:174198