Phenotypes Associated with This Genotype

Genotype
MGI:2174899

• Allelic Composition: Gulo^sfx/Gulo^sfx
• Genetic Background: BALB/cBy-Gulo^sfx/J

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

skeleton

abnormal osteoclast differentiation ( J:66648 )

abnormal long bone epiphyseal plate morphology ( J:66648 )

• growth plate arrest on the long bones was noted

• osteoid was absent in regions adjacent to the growth plates of the long bones

• necrosis below the growth plate and neovascularization

abnormal vertebral body morphology ( J:66648 )

• lumbar vertebral bodies exhibited an absence of osteoid and trabeculae

decreased bone mineral density of femur ( J:66648 )

• bone mineral density is similar to controls in the center of the femoral diaphysis, but declines significantly at the ends of the femoral diaphysis

decreased compact bone thickness ( J:66648 )

• thickness of the mutant bone was approximately 65% of controls

decreased chondrocyte number ( J:66648 )

• reduced number of chondrocytes in the growth plates

abnormal skeleton physiology ( J:66648 )

• reduced osteocalcin levels

fragile skeleton ( J:66648 )

• numerous spontaneous impact fractures were observed in mutant mice; complete fractures were less common

homeostasis/metabolism

decreased circulating insulin-like growth factor I level ( J:66648 )

• reduced IGF-I levels

decreased circulating calcium level ( J:66648 )

decreased circulating phosphate level ( J:66648 )

decreased circulating alkaline phosphatase level ( J:66648 )

growth/size/body

slow postnatal weight gain ( J:66648 )

• mice failed to maintain the rate of weight gain compared to littermates after 26-30 days of age

enlarged kidney ( J:66648 )

hematopoietic system

abnormal osteoclast differentiation ( J:66648 )

small thymus ( J:66648 )

decreased hematocrit ( J:66648 )

small spleen ( J:66648 )

immune system

abnormal osteoclast differentiation ( J:66648 )

small thymus ( J:66648 )

small spleen ( J:66648 )

behavior/neurological

decreased locomotor activity ( J:66648 )

• mice exhibited increased difficulty moving starting at 26-30 days of age

nervous system

increased brain size ( J:66648 )

renal/urinary system

enlarged kidney ( J:66648 )

reproductive system

reproductive system phenotype ( J:66648 )

N • normal testis

liver/biliary system

liver/biliary system phenotype ( J:66648 )

N • normal liver

cardiovascular system

cardiovascular system phenotype ( J:66648 )

N • normal heart

integument

disheveled coat ( J:66648 )

• scruffy appearance; possibly due decreased self-grooming behavior

cellular

abnormal osteoclast differentiation ( J:66648 )

endocrine/exocrine glands

small thymus ( J:66648 )