Phenotypes associated with this allele

• Allele Symbol: Rab33b^em1Rmr
• Allele Name: endonuclease-mediated mutation 1, Roy Morello
• Allele ID: MGI:7516354
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rab33b^em1Rmr/Rab33b^em1Rmr	involves: C57BL/6	MGI:7517090
ht2	Rab33b^em1Rmr/Rab33b^+	involves: C57BL/6	MGI:7517091

Genotype
MGI:7517090

hm1

• Allelic Composition: Rab33b^em1Rmr/Rab33b^em1Rmr
• Genetic Background: involves: C57BL/6

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

growth/size/body

decreased body weight ( J:338833 )

♂ • small but significant decrease in male body weight at 6 weeks of age but not at 4 months of age or in females

hematopoietic system

abnormal osteoclast morphology ( J:338833 )

♂ • osteoclast surfaces are increased in the lumbar spine

increased osteoclast cell number ( J:338833 )

♂ • osteoclast numbers are increased in the lumbar spine

immune system

abnormal osteoclast morphology ( J:338833 )

♂ • osteoclast surfaces are increased in the lumbar spine

increased osteoclast cell number ( J:338833 )

♂ • osteoclast numbers are increased in the lumbar spine

skeleton

abnormal osteoclast morphology ( J:338833 )

♂ • osteoclast surfaces are increased in the lumbar spine

increased osteoclast cell number ( J:338833 )

♂ • osteoclast numbers are increased in the lumbar spine

abnormal femur morphology ( J:338833 )

♂ • both the inner medullary radius and endosteal circumference are smaller in males at 4 months of age resulting in a decreased medullary area

♂ • however, morphology of growth plate is normal and no atypical skeletal malformations are seen at 6 weeks or 4 months of life

increased compact bone thickness ( J:338833 )

♂ • mid-shaft femurs of males show an increase in cortical thickness at 4 months of age

increased femur yield load ( J:338833 )

♂ • 4-month-old males show an elevated yield load (yield force) in a femoral three-point bending structural mechanical test

limbs/digits/tail

abnormal femur morphology ( J:338833 )

♂ • both the inner medullary radius and endosteal circumference are smaller in males at 4 months of age resulting in a decreased medullary area

♂ • however, morphology of growth plate is normal and no atypical skeletal malformations are seen at 6 weeks or 4 months of life

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Smith-McCort dysplasia 2		DOID:0081271	OMIM:615222	J:338833

Genotype
MGI:7517091

ht2

• Allelic Composition: Rab33b^em1Rmr/Rab33b⁺
• Genetic Background: involves: C57BL/6

skeleton

abnormal osteoclast morphology ( J:338833 )

♂ • osteoclast surfaces are about 4-fold higher in the lumbar spine than in wild-type mice

abnormal osteoclast differentiation ( J:338833 )

♂ • an in vitro osteoclast differentiation assay using bone marrow macrophages from males shows increased osteoclastogenesis

increased osteoclast cell number ( J:338833 )

♂ • osteoclast numbers are about 4-fold higher in the lumbar spine than in wild-type mice

increased femur compact bone thickness ( J:338833 )

♂ • mid-shaft femurs of males show an increase in cortical thickness at 4 months of age

♂ • however, periosteal circumference and total mid-shaft area are not different, indicating bones of normal size and diameter

increased bone mineral density of lumbar vertebrae ( J:338833 )

♂ • males exhibit a mild increase in bone mineral density in the lumbar spine at 4 months of age; no differences are seen in young males or in females

♂ • however, no differences in bone volume/tissue volume or trabecular bone number in the lumbar spine are seen

increased volumetric bone mineral density ( J:338833 )

♂ • femoral volumetric bone mineral density is elevated in males at both 6 weeks and 4 months of age

increased trabecular bone thickness ( J:338833 )

♂ • males show higher trabecular bone thickness in the lumbar spine and distal femurs at 4 months of age

decreased bone resorption ( J:338833 )

♂ • the increased trabecular and cortical thickness and reduced medullary area indicate a potential reduction in bone resorption

increased femur stiffness ( J:338833 )

♂ • femoral stiffness is elevated in 4-month-old males

increased femur yield load ( J:338833 )

♂ • 4-month-old males show an elevated yield load (yield force) in a femoral three-point bending structural mechanical test

cellular

abnormal osteoclast differentiation ( J:338833 )

♂ • an in vitro osteoclast differentiation assay using bone marrow macrophages from males shows increased osteoclastogenesis

hematopoietic system

abnormal osteoclast morphology ( J:338833 )

♂ • osteoclast surfaces are about 4-fold higher in the lumbar spine than in wild-type mice

abnormal osteoclast differentiation ( J:338833 )

♂ • an in vitro osteoclast differentiation assay using bone marrow macrophages from males shows increased osteoclastogenesis

increased osteoclast cell number ( J:338833 )

♂ • osteoclast numbers are about 4-fold higher in the lumbar spine than in wild-type mice

immune system

abnormal osteoclast morphology ( J:338833 )

♂ • osteoclast surfaces are about 4-fold higher in the lumbar spine than in wild-type mice

abnormal osteoclast differentiation ( J:338833 )

♂ • an in vitro osteoclast differentiation assay using bone marrow macrophages from males shows increased osteoclastogenesis

increased osteoclast cell number ( J:338833 )

♂ • osteoclast numbers are about 4-fold higher in the lumbar spine than in wild-type mice

limbs/digits/tail

increased femur compact bone thickness ( J:338833 )

♂ • mid-shaft femurs of males show an increase in cortical thickness at 4 months of age

♂ • however, periosteal circumference and total mid-shaft area are not different, indicating bones of normal size and diameter

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Smith-McCort dysplasia 2		DOID:0081271	OMIM:615222	J:338833