Phenotypes Associated with This Genotype

Genotype
MGI:6356523

• Allelic Composition: Hvf/Hvf⁺
• Genetic Background: involves: C3H/HeH * C57BL/6J

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

growth/size/body

decreased body fat mass ( J:277886 )

• more than 40% decrease in fat mass

decreased lean body mass ( J:277886 )

• 20% decrease in lean mass

decreased body weight ( J:277886 )

• body weight is reduced by more than 25%

skeleton

abnormal intervertebral disk morphology ( J:277886 )

• lumbar vertebrae exhibit displacement of intervertebral discs

small intervertebral disk ( J:277886 )

• vertebral column shows generalized disc narrowing

kyphosis ( J:277886 )

• kyphosis in 30% of mice

scoliosis ( J:277886 )

• scoliosis in 17% of mice

kyphoscoliosis ( J:277886 )

• kyphoscoliosis in 30% of mice

abnormal lumbar vertebrae morphology ( J:277886 )

• lumbar vertebrae exhibit displacement of intervertebral discs and ossification centers

• lumbar vertebrae show wider neural spine and bone formation in the spaces between L3, L4, and L5

• L3 to L5 have distorted neural canals and lower ends of L2 and L5 have an abnormal orientation due to scoliosis in this region

lumbar vertebral fusion ( J:277886 )

• kyphosis and scoliosis associated with fusion of the lumbar vertebrae

abnormal vertebral spinous process morphology ( J:277886 )

• lumbar vertebrae show wider neural spine

• displacement with compression of the neural spine adjacent to regions with dorsal disc narrowing

abnormal vertebral transverse process morphology ( J:277886 )

• transverse processes of lumbar vertebrae are distorted

abnormal vertebral body morphology ( J:277886 )

• lumbar vertebrae exhibit irregularly shaped vertebral bodies

decreased bone mineral density ( J:277886 )

♂ • whole-body bone mineral density is about 8% lower in males but is similar to wild-type in females

♂ • however, no differences in trabecular bone volume, trabecular thickness, or bone density are seen in the first and second lumbar vertebrae

adipose tissue

decreased body fat mass ( J:277886 )

• more than 40% decrease in fat mass

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:277886 )

N • plasma calcium, phosphate, and albumin levels and alkaline phosphatase activity are unaffected

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
scoliosis		DOID:0060249		J:277886