Phenotypes Associated with This Genotype

Genotype
MGI:2656035

• Allelic Composition: Clec3b^tm1Umw/Clec3b^tm1Umw
• Genetic Background: involves: 129S1/Sv * C57BL/6J

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

skeleton

skeleton phenotype ( J:72638 )

N • at 16 weeks of age, homozygotes exhibit a normal peak bone mass density and are not more susceptible to ovariectomy-induced osteoporosis than control mice, as determined by dual-emission X-ray absorptiometry scanning

abnormal intervertebral disk morphology ( J:72638 )

• at 6 months of age, intervertebral disk material is asymmetrical in shape: expanded and loose in structure at the convex side and narrowed and compressed at the concave side

abnormal intervertebral disk development ( J:72638 )

• an asymmetric development of the intervertebral disk is observed at 6 months

kyphosis ( J:72638 )

• starting at 3-6 months of age, homozygotes exhibit an abnormal anteroposterior curvature of the spine (kyphosis)

• at 6 months of age, homozygotes display a mean thoracic angle of 93 2 vs 73C 2 observed in heterozygotes

• at 6 and 12 months of age, spinal curvature is increased due to asymmetric development of the intervertebral disk and asymmetric activity of the growth plates

• however, no apparent muscle pathology is observed

lordokyphosis ( J:72638 )

• in addition to kyphosis, homozygotes display a cervical lordosis

• however, neither scoliosis nor signs of halisteresis or compression fractures are observed

abnormal vertebrae morphology ( J:72638 )

• ~30% of homozygotes display three major pathological changes of the vertebrae, including:

• anterior wedging, i.e., reduction of the anterior height of the corpora due to angulation of the terminal plates, with occasional loss of definition or irregularity of the terminal plates

• rounding or a tip-like look of the vertebrae

• an overall shortening and/or broadening of the vertebrae

• however, no pathological changes of the long bones are observed by X-ray analysis

abnormal vertebral body development ( J:72638 )

• at 6 months of age, increased thoracic curvature is associated with a thickening and broadening of the vertebral bodies

abnormal epiphyseal plate morphology ( J:72638 )

• an asymmetric activity of the growth plates is observed at 6 months of age

• at 12 months of age, mutant spines display various degrees of irregular growth plates associated with protrusions of vertebral disk material into the cavum subarachnoidale or into the vertebral bodies

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Scheuermann's disease		DOID:13300	OMIM:181440	J:72638