Phenotypes associated with this allele

• Allele Symbol: Fgf23^tm1Sliu
• Allele Name: targeted mutation 1, Shiguang Liu
• Allele ID: MGI:3652903
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fgf23^tm1Sliu/Fgf23^tm1Sliu	involves: 129S/SvEv * C57BL/6	MGI:3653484
cx2	Fgf23^tm1Sliu/Fgf23^+ Phex^Hyp/Y	involves: 129S/SvEv * C57BL/6	MGI:3653482
cx3	Fgf23^tm1Sliu/Fgf23^tm1Sliu Phex^Hyp/Y	involves: 129S/SvEv * C57BL/6	MGI:3653483

Genotype
MGI:3653484

hm1

• Allelic Composition: Fgf23^tm1Sliu/Fgf23^tm1Sliu
• Genetic Background: involves: 129S/SvEv * C57BL/6

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

mortality/aging

premature death ( J:110579 )

• mice show mortality similar to other reported Fgf23-deficient mice

growth/size/body

decreased body weight ( J:110579 )

• body weight is significantly lower at 2 weeks of age; there is no significant change between 2 and 6 weeks indicating growth arrest

decreased body length ( J:110579 )

• at 2 weeks of age, body length is significantly lower than wild-type; there is no significant change between 2 and 6 weeks indicating growth arrest

homeostasis/metabolism

decreased circulating parathyroid hormone level ( J:110579 )

• levels are decreased by ~50% in homozygotes compared to wild-type

abnormal circulating calcium level ( J:110579 )

• serum calcium is slightly increased compared to wild-type

abnormal circulating phosphate level ( J:110579 )

• levels are significantly higher than in wild-type

abnormal vitamin D level ( J:110579 )

• male mice show an ~2-fold increase in serum 1,25(OH)₂D₃ concentrations compared to wild-type

skeleton

abnormal long bone morphology ( J:110579 )

• mice display a dyschondroplasia leading to impaired long bone growth

short femur ( J:110579 )

abnormal long bone hypertrophic chondrocyte zone ( J:110579 )

• there is an increase in this zone relative to the proliferative zone without appreciable widening of the growth plate

abnormal long bone metaphysis morphology ( J:110579 )

• bones show increased calcification of the subchondral region of the distal methaphysis

abnormal bone structure ( J:110579 )

• mice have miniaturized bones of normal shape

decreased bone mineral density ( J:110579 )

• there is a ~20% decrease in bone mineral density

abnormal trabecular bone morphology ( J:110579 )

• there is a reduction in trabecular bone volume

abnormal bone mineralization ( J:110579 )

• mice display reduced osteoid volume and impaired mineralization

limbs/digits/tail

short femur ( J:110579 )

Genotype
MGI:3653482

cx2

• Allelic Composition: Fgf23^tm1Sliu/Fgf23⁺; Phex^Hyp/Y
• Genetic Background: involves: 129S/SvEv * C57BL/6

homeostasis/metabolism

decreased circulating phosphate level ( J:110579 )

♂ • levels are similar to those in Phex-deficient mice

abnormal vitamin D level ( J:110579 )

♂ • male mice show a ~3-fold increase in serum 1,25(OH)₂D₃ compared to Phex-null mice

skeleton

long femur ( J:110579 )

♂ • femur length is increased over Phex homozygotes

increased bone mineral density ( J:110579 )

♂ • male mice display a small but significant increase in bone mineral density compared to Phex-null mice

rickets ( J:110579 )

♂

limbs/digits/tail

long femur ( J:110579 )

♂ • femur length is increased over Phex homozygotes

growth/size/body

decreased body weight ( J:110579 )

♂ • male mice have lower body weight than wild-type but it is increased over Phex homozygotes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked dominant hypophosphatemic rickets		DOID:0050445	OMIM:307800	J:110579

Genotype
MGI:3653483

cx3

• Allelic Composition: Fgf23^tm1Sliu/Fgf23^tm1Sliu; Phex^Hyp/Y
• Genetic Background: involves: 129S/SvEv * C57BL/6

mortality/aging

premature death ( J:110579 )

♂ • mortality rates are indistinguishable from Fgf23 homozgyotes

growth/size/body

abnormal postnatal growth/weight/body size ( J:110579 )

♂ • male double mutants are identical to Fgf23^tm1Sliu homozygotes

decreased body weight ( J:110579 )

♂

decreased body length ( J:110579 )

♂ • levels are decreased by ~10-fold in double homozygotes compared to Phex-deficient mice but are the same as levels with Fgf23-deficiency alone

homeostasis/metabolism

decreased circulating parathyroid hormone level ( J:110579 )

♂ • levels are decreased by ~10-fold in double homozygotes compared to Phex-deficient mice but are the same as levels with Fgf23-deficiency alone

abnormal circulating calcium level ( J:110579 )

♂ • at 6 weeks, serum calcium in males is increased to the level found in Fgf23-deficient mice

abnormal circulating phosphate level ( J:110579 )

♂ • levels are same as male Fgf-null mice at 6 weeks

abnormal vitamin D level ( J:110579 )

♂ • male mice show a markedly elevated increase in serum 1,25(OH)₂D₃ concentrations compared to Fgf23-deficient mice at 6 weeks

skeleton

short femur ( J:110579 )

♂

abnormal long bone epiphyseal plate morphology ( J:110579 )

♂ • abnormalities resemble those seen in male Fgf23 null mice

decreased bone mineral density ( J:110579 )

♂ • bone mineral density is increased to levels similar to Fgf23-deficient mice but it is still lower than in wild-type

♂ • there is a reduction in the amount of osteoid compared to Phex-null mice

rickets ( J:110579 )

♂ • correction of rickets is observed compared to Fgf23^+/-/Phex-null mice

limbs/digits/tail

short femur ( J:110579 )

♂

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked dominant hypophosphatemic rickets		DOID:0050445	OMIM:307800	J:110579