Phenotypes associated with this allele

• Allele Symbol: Gulo^sfx-2J
• Allele Name: spontaneous fracture 2 Jackson
• Allele ID: MGI:3510598
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gulo^sfx-2J/Gulo^sfx-2J	RB156Bnr/Ei Dsp^rul Gulo^sfx-2J/GrsrJ	MGI:3574880

Genotype
MGI:3574880

hm1

• Allelic Composition: Gulo^sfx-2J/Gulo^sfx-2J
• Genetic Background: RB156Bnr/Ei Dsp^rul Gulo^sfx-2J/GrsrJ

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

Fracture site with extensive callus formation in Gulo^sfx-2J/Gulo^sfx-2J mice

mortality/aging

premature death ( J:96441 )

• many die by 8 weeks of age

behavior/neurological

abnormal gait ( J:96441 )

• at 4-5 weeks of age mice begin to hobble about their cage

hindlimb paralysis ( J:96441 )

• between 5 and 8 weeks of age the mutants develop rear limb paralysis

growth/size/body

decreased body size ( J:96441 )

• at 4-5 weeks of age when the mutants appear smaller than their control littermates

limbs/digits/tail

femur fracture ( J:96441 )

• complete fractures of the femur, in particular at the knee near the epiphysis and beneath the growth plate

skeleton

femur fracture ( J:96441 )

• complete fractures of the femur, in particular at the knee near the epiphysis and beneath the growth plate

decreased bone mineral density ( J:96441 )

• very low amounts of mineral were detected in the overall mutant skeleton compared to controls

decreased compact bone thickness ( J:96441 )

• between 4 and 8 weeks of age mice show thin cortical bone; in particular, the long bones were affected; forelimbs and spine were less affected than the rear legs

abnormal trabecular bone morphology ( J:96441 )

• absence of trabeculae; forelimbs and spine were less affected than the rear leg

abnormal bone mineralization ( J:96441 )

• mineralized callus; extensive at the fracture sites

rickets ( J:96441 )

• severe osteolysis with fibrous osteodystrophy was observed

vision/eye

cataract ( J:96441 )

• cataracts on both eyes were noted; however, this is a characteristic of the background strain and may not be due to the sfx mutation

abnormal retina morphology ( J:96441 )

• rosettes and wavy outer nuclear layer of retinas; this phenotype may also be characteristic of the background strain