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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 (16 available)
PhexHyp mutation (2 available); any Phex mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
increased circulating phosphate level ( J:94041 )
• higher serum phosphate levels than in hemizygous Phex mice with levels similar to Fgf23 homozygotes

limbs/digits/tail
abnormal femur morphology ( J:94041 )
• longer and thinner femurs compared to compound heterozygotes and hemizygous Phex, with relatively regular appearing growth plates

skeleton
abnormal femur morphology ( J:94041 )
• longer and thinner femurs compared to compound heterozygotes and hemizygous Phex, with relatively regular appearing growth plates
abnormal bone mineralization ( J:94041 )
• 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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory