Phenotypes Associated with This Genotype

Genotype
MGI:3812126

• Allelic Composition: Slc35d1^tm1Hko/Slc35d1^tm1Hko
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

neonatal lethality, complete penetrance ( J:130304 )

skeleton

abnormal craniofacial bone morphology ( J:130304 )

• at birth, mice exhibit hypoplasia of the craniofacial bones

abnormal long bone epiphyseal plate proliferative zone ( J:130304 )

• at E15.5, the proliferating zone is greatly reduced compared to in wild-type mice and the cartilage within it is disorganized

• however, proliferation and apoptosis rates as well as chondrocyte differentiation within the zone are normal

decreased length of long bones ( J:130304 )

short ilium ( J:130304 )

• longitudinally short ilium

platyspondylia ( J:130304 )

• flattened

chondrodystrophy ( J:130304 )

growth/size/body

protruding tongue ( J:130304 )

short snout ( J:130304 )

abnormal chest morphology ( J:130304 )

• narrow

decreased body length ( J:130304 )

distended abdomen ( J:130304 )

limbs/digits/tail

short limbs ( J:130304 )

• extremely short limbs

craniofacial

abnormal craniofacial bone morphology ( J:130304 )

• at birth, mice exhibit hypoplasia of the craniofacial bones

protruding tongue ( J:130304 )

short snout ( J:130304 )

digestive/alimentary system

protruding tongue ( J:130304 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
schneckenbecken dysplasia		DOID:0050775	OMIM:269250	J:130304