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Phenotypes Associated with This Genotype
Genotype
MGI:4941783
Allelic
Composition
Smoc1Tn(sb-lacZ,GFP)IR3.1Jtak/Smoc1Tn(sb-lacZ,GFP)IR3.1Jtak
Genetic
Background
involves: C3H * C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smoc1Tn(sb-lacZ,GFP)IR3.1Jtak mutation (2 available); any Smoc1 mutation (13 available)
phenotype observed in females
phenotype observed in males
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/body
• 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 ID Ref(s)
Microphthalmia with Limb Anomalies; MLA 206920 J:169180


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory