Mouse Genome Informatics
hm
    Smoc1Tn(sb-lacZ,GFP)IR3.1Jtak/Smoc1Tn(sb-lacZ,GFP)IR3.1Jtak
involves: C3H * C57BL/6 * DBA/2
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mice do not survive beyond 3 weeks

limbs/digits/tail
• 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
• mice exhibit pes valgus (foot bent outward at the talocalcanean joint) in the hind limb unlike wild-type mice
• soft tissue syndactyly at birth and P14
• 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
• in all mice at P0 and at P14
• the tibia/fibula and calcanea joint is malpositioned compared to in wild-type mice
• mice exhibit stenosis between the fourth and fifth metatarsal unlike wild-type mice

vision/eye
• in some mice
• at P0 and P14, optic diameter is reduced compared to in wild-type mice
• at E14.5, 11 of 12 eyes exhibit atrophy of the anteroventral part of the retina compared with wild-type mice
• 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
• at P0, all eyes exhibit retinal atrophy unlike wild-type mice

growth/size
• at P0 and P14

craniofacial

skeleton
• mice exhibit stenosis between the fourth and fifth metatarsal unlike wild-type mice
• the tibia/fibula and calcanea joint is malpositioned compared to in wild-type mice
• mice exhibit stenosis between the fourth and fifth metatarsal unlike wild-type mice

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

pigmentation
• 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

cellular
• 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
OMIM IDRef(s)
Microphthalmia with Limb Anomalies 206920 J:169180