Phenotypes Associated with This Genotype

Genotype
MGI:4941783

• Allelic Composition: Smoc1^{Tn(sb-lacZ,GFP)IR3.PV384Jtak}/Smoc1^{Tn(sb-lacZ,GFP)IR3.PV384Jtak}
• Genetic Background: involves: C3H * C57BL/6J * DBA/2

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

mortality/aging

postnatal lethality, complete penetrance ( J:169180 )

• mice do not survive beyond 3 weeks

limbs/digits/tail

abnormal interdigital cell death ( J:169180 )

• at E13.5 and E14.5, apoptosis cells in the mesenchyme between digits 2 and 3 and digits 3 and 4 is reduced with persistent webbing compared to in wild-type mice

abnormal pollex morphology ( J:169180 )

• at P14

syndactyly ( J:169180 )

• soft tissue syndactyly at birth and P14

interdigital webbing ( J:169180 )

• at E13.5 and E14.5, apoptosis cells in the mesenchyme between digits 2 and 3 and digits 3 and 4 is reduced with persistent webbing compared to in wild-type mice

clubfoot ( J:169180 )

• in all mice at P0 and at P14

abnormal hindlimb morphology ( J:169180 )

• the tibia/fibula and calcanea joint is malpositioned compared to in wild-type mice

pes valgus ( J:169180 )

• mice exhibit pes valgus (foot bent outward at the talocalcanean joint) in the hind limb unlike wild-type mice

short fibula ( J:169180 )

bowed tibia ( J:169180 )

fused metatarsal bones ( J:169180 )

• mice exhibit stenosis between the fourth and fifth metatarsal unlike wild-type mice

vision/eye

absent optic nerve ( J:169180 )

• in some mice

optic nerve hypoplasia ( J:169180 )

• at P0 and P14, optic diameter is reduced compared to in wild-type mice

microphthalmia ( J:169180 )

abnormal retina morphology ( J:169180 )

• at E14.5, 11 of 12 eyes exhibit atrophy of the anteroventral part of the retina compared with wild-type mice

decreased retina ganglion cell number ( J:169180 )

abnormal retina pigment epithelium morphology ( J:169180 )

• at E14.5, 10 of 12 eyes exhibit an extension of the retinal pigmented epithelium to the optic nerve unlike wild-type mice

• at P0, 3 of 6 eyes exhibit an extension of the retinal pigmented epithelium to the optic nerve unlike wild-type mice

retina degeneration ( J:169180 )

• at P0, all eyes exhibit retinal atrophy unlike wild-type mice

growth/size/body

high palate ( J:169180 )

decreased body size ( J:169180 )

decreased body weight ( J:169180 )

• at P0 and P14

postnatal growth retardation ( J:169180 )

• at P0 and P14

craniofacial

high palate ( J:169180 )

skeleton

short fibula ( J:169180 )

bowed tibia ( J:169180 )

fused metatarsal bones ( J:169180 )

• mice exhibit stenosis between the fourth and fifth metatarsal unlike wild-type mice

abnormal joint morphology ( J:169180 )

• the tibia/fibula and calcanea joint is malpositioned compared to in wild-type mice

synostosis ( J:169180 )

• mice exhibit stenosis between the fourth and fifth metatarsal unlike wild-type mice

nervous system

decreased retina ganglion cell number ( J:169180 )

absent optic nerve ( J:169180 )

• in some mice

optic nerve hypoplasia ( J:169180 )

• at P0 and P14, optic diameter is reduced compared to in wild-type mice

pigmentation

abnormal retina pigment epithelium morphology ( J:169180 )

• at E14.5, 10 of 12 eyes exhibit an extension of the retinal pigmented epithelium to the optic nerve unlike wild-type mice

• at P0, 3 of 6 eyes exhibit an extension of the retinal pigmented epithelium to the optic nerve unlike wild-type mice

digestive/alimentary system

high palate ( J:169180 )

cellular

abnormal interdigital cell death ( J:169180 )

• at E13.5 and E14.5, apoptosis cells in the mesenchyme between digits 2 and 3 and digits 3 and 4 is reduced with persistent webbing compared to 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:169180