Phenotypes Associated with This Genotype

Genotype
MGI:6448986

• Allelic Composition: Cbs^tm1Unc/Cbs^tm1Unc
• Genetic Background: involves: 129P2/OlaHsd

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

growth/size/body

decreased body size ( J:112538 )

slow postnatal weight gain ( J:112538 )

• weigh an average of 20% less compared to wild-type controls from 3-8 months of age

homeostasis/metabolism

increased circulating homocysteine level ( J:112538 )

• plasma levels are 50-fold higher compared to wild-type controls

skeleton

disorganized long bone epiphyseal plate ( J:112538 )

• especially in the hypertrophic zone at 1 month of age but not at 3 months of age

increased long bone epiphyseal plate size ( J:112538 )

• increased width of the long bone cartilaginous growth plates

decreased length of long bones ( J:112538 )

• at 1 month of age

short humerus ( J:112538 )

short ulna ( J:112538 )

short femur ( J:112538 )

short tibia ( J:112538 )

abnormal spine curvature ( J:112538 )

• apparent by P15

• curvature is located in the thoracic vertebrae

kyphoscoliosis ( J:112538 )

• severity progresses with age

small vertebrae ( J:112538 )

• shorter and thinner lumbar vertebrae

abnormal cartilage development ( J:112538 )

• delayed differentiation at 1 month of age in long bones

• however by 3 months of age differences are no longer apparent

abnormal long bone hypertrophic chondrocyte zone ( J:112538 )

• disorganized

delayed endochondral bone ossification ( J:112538 )

• at 1 month of age but mostly caught up by 3 months of age

limbs/digits/tail

arachnodactyly ( J:112538 )

• digits are the same length as controls despite smaller body size with relatively elongated metatarsal and metacarpal bones

short humerus ( J:112538 )

short ulna ( J:112538 )

short femur ( J:112538 )

short tibia ( J:112538 )

short tail ( J:112538 )

• at P15

kinked tail ( J:112538 )

• bent at the distal tip by P15

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hyperhomocysteinemia		DOID:9279	OMIM:603174	J:112538