All Phenotypes Smoc1<tm1a(EUCOMM)Wtsi> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Smoc1^{tm1a(EUCOMM)Wtsi}/Smoc1^{tm1a(EUCOMM)Wtsi}	C57BL/6N-Smoc1^{tm1a(EUCOMM)Wtsi}	MGI:5056093
ht2	Smoc1^{tm1a(EUCOMM)Wtsi}/Smoc1⁺	C57BL/6N-Smoc1^{tm1a(EUCOMM)Wtsi}/H	MGI:5782194

♀	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

Allelic Composition	Smoc1^{tm1a(EUCOMM)Wtsi}/Smoc1⁺
Genetic Background	C57BL/6N-Smoc1^{tm1a(EUCOMM)Wtsi}/H
Cell Lines	EPD0348_1_C03

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smoc1^{tm1a(EUCOMM)Wtsi} mutation (2 available); any Smoc1 mutation (33 available)

Data Sources

IMPC Data for Smoc1

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

growth/size/body

decreased body weight ( J:165965 )

IMPC - HAR

integument

abnormal coat/hair pigmentation ( J:165965 )

IMPC - HAR

pigmentation

abnormal coat/hair pigmentation ( J:165965 )

IMPC - HAR

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)
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