Phenotypes associated with this allele

• Allele Symbol: Slc35a3^em1Tfric
• Allele Name: endonuclease-mediated mutation 1, Tatsuya Furuichi
• Allele ID: MGI:7464255
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc35a3^em1Tfric/Slc35a3^em1Tfric	C57BL/6J-Slc35a3^em1Tfric	MGI:7464272

Genotype
MGI:7464272

hm1

• Allelic Composition: Slc35a3^em1Tfric/Slc35a3^em1Tfric
• Genetic Background: C57BL/6J-Slc35a3^em1Tfric

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

mortality/aging

perinatal lethality, complete penetrance ( J:334711 )

growth/size/body

decreased body size ( J:334711 )

• severe dwarfism

skeleton

small cranium ( J:334711 )

• skulls appear to be slightly smaller

decreased length of long bones ( J:334711 )

• the long bones, such as femur and tibia, are shorter

abnormal sternum morphology ( J:334711 )

• fusion of the sternum is delayed

abnormal rib morphology ( J:334711 )

• severe rib anomalies

decreased rib number ( J:334711 )

• mice show individual differences in the number of ribs, with 11-13 pairs

rib bifurcation ( J:334711 )

abnormal vertebrae morphology ( J:334711 )

• severe vertebral anomalies including fusion and malformations of the thoracic and lumbar vertebrae

thoracic vertebral fusion ( J:334711 )

lumbar vertebral fusion ( J:334711 )

abnormal epiphyseal plate morphology ( J:334711 )

• however, chondrocyte proliferation, differentiation, and apoptosis are not affected

• growth plate is shorter in humerus and lumbar vertebrae at E18.5

• the extracellular matrix space in growth plates is severely decreased and thus cell density is increased in the round chondrocyte areas

• most flat chondrocytes are reshaped to spindle-like chondrocytes

abnormal long bone epiphyseal plate proliferative zone ( J:334711 )

• many flat proliferative chondrocytes are reshaped to spindle-like chondrocytes in the cartilage

decreased long bone epiphyseal plate size ( J:334711 )

craniofacial

small cranium ( J:334711 )

• skulls appear to be slightly smaller

homeostasis/metabolism

abnormal glycosaminoglycan level ( J:334711 )

• glycosaminoglycan biosynthesis is impaired in the spine and limbs; the amounts of chondroitin sulfate/dermatan sulfate and heparan sulfate-derived disaccharides in the GAG-peptide fractions from the spine and limbs are decreased and the amount of keratan sulfate in the spine is decreased, while amounts of hyaluronan are normal