Phenotypes Associated with This Genotype

Genotype
MGI:5441255

hm1

• Allelic Composition: Col2a1^Lpk/Col2a1^Lpk
• Genetic Background: involves: C3H/HeH * C57BL/6J

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

mortality/aging

perinatal lethality, complete penetrance ( J:187141 )

skeleton

decreased length of long bones ( J:187141 )

• shorter and wider than heterozygous mice

increased diameter of long bones ( J:187141 )

• shorter and wider than heterozygous mice

abnormal cartilage morphology ( J:187141 )

• contains chondrocytes with multiple distended cytoplasmic vacuoles, increased ratio of the number of cells with chondroptotic nuclei and enlarged endoplasmic reticulum with amorphous inclusions

disorganized long bone epiphyseal plate ( J:187141 )

abnormal cartilage development ( J:187141 )

• impaired chondrocyte development

abnormal long bone epiphyseal plate proliferative zone ( J:187141 )

• abnormal direction of proliferating chondrocytes

abnormal chondrocyte morphology ( J:187141 )

• reduced fibril content

• contains chondrocytes with multiple distended cytoplasmic vacuoles, increased ratio of the number of cells with chondroptotic nuclei and enlarged endoplasmic reticulum with amorphous inclusions

growth/size/body

cleft palate ( J:187141 )

decreased fetal size ( J:187141 )

• at E17.5

craniofacial

cleft palate ( J:187141 )

digestive/alimentary system

cleft palate ( J:187141 )