Phenotypes Associated with This Genotype

Genotype
MGI:3512438

hm3

• Allelic Composition: Fgf23^tm1Blan/Fgf23^tm1Blan
• Genetic Background: Not Specified

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

mortality/aging

premature death ( J:94041 )

• all mutants died by 13 weeks of age

growth/size/body

decreased body weight ( J:94041 )

• decreased male mean body weight (6.6 g) compared to wild-type (23.6 g) at 11 weeks

postnatal growth retardation ( J:94041 )

• growth retardation significant by P17

homeostasis/metabolism

increased circulating alkaline phosphatase level ( J:94041 )

• higher alkaline phosphatase activity (990 vs. 238 U/l in wild-type)

abnormal mineral homeostasis ( J:94041 )

• abnormal mineralization in various organs such as heart and kidney

increased circulating phosphate level ( J:94041 )

• significantly higher serum phosphate levels (16.3 mg/dl) and serum 1,25(OH)₂D₃ (368.1 pg/ml) concentration than wild-type (9.6 mg/dl, 56.4 pg/ml respectively)

limbs/digits/tail

abnormal femur morphology ( J:94041 )

• increased osteoid formation in cortical bone

skeleton

abnormal femur morphology ( J:94041 )

• increased osteoid formation in cortical bone

decreased long bone epiphyseal plate size ( J:94041 )

• narrowed growth plates with decreased numbers of hypertrophic chondrocytes

thickened long bone epiphysis ( J:94041 )

abnormal axial skeleton morphology ( J:94041 )

• mutants displayed severe axial malformations

abnormal rib morphology ( J:94041 )

• increased woven bone formation and accumulation of osteoid

abnormal vertebrae morphology ( J:94041 )

• increased woven bone formation and accumulation of osteoid

increased bone mineral content ( J:94041 )

• increased whole-body bone mineral content

decreased bone mineral density ( J:94041 )

• bone mineral density was reduced in hindlimbs and forelimbs with lower volumetric bone mineral density of the femoral shaft and the femoral metaphysis

• reduction in bone mineral density increased over time

decreased volumetric bone mineral density ( J:94041 )

• lower volumetric bone mineral density of the femoral shaft and the femoral metaphysis

decreased chondrocyte number ( J:94041 )

• reduction of hypertrophic chondrocytes from 6-10 cell layers in wild-type to 3-5 cell layers in mutants

abnormal bone mineralization ( J:94041 )

• bone nodules were present at most ribs and paws and excessive mineral accumulation was found in areas surrounding the shaft of the radius and ulna

fragile skeleton ( J:94041 )

• bones were abnormally fragile and deformed