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Phenotypes Associated with This Genotype
Genotype
MGI:3512452
Allelic
Composition
Fgf23tm1Blan/Fgf23tm1Blan
PhexHyp/Y
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf23tm1Blan mutation (0 available); any Fgf23 mutation (6 available)
PhexHyp mutation (3 available); any Phex mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• higher serum phosphate levels than in hemizygous Phex mice with levels similar to Fgf23 homozygotes

limbs/digits/tail
• longer and thinner femurs compared to compound heterozygotes and hemizygous Phex, with relatively regular appearing growth plates

skeleton
• longer and thinner femurs compared to compound heterozygotes and hemizygous Phex, with relatively regular appearing growth plates
• overall bone mineralization resembled that of homozygous Fgf23 mutants, including nodular deformities in ribs and paws at 3 weeks of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal dominant hypophosphatemic rickets DOID:0050948 OMIM:193100
J:94041


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/10/2017
MGI 6.10
The Jackson Laboratory