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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		PhexMhdabap024
Martin Hrabe de Angelis bone alkaline phospatase mutant 024
MGI:5424921
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		PhexMhdabap024/PhexMhdabap024 C3HeB/FeJ-PhexMhdabap024 MGI:5425687
ht2
 		PhexMhdabap024/Phex+ C3HeB/FeJ-PhexMhdabap024 MGI:6198726
ot3
 		PhexMhdabap024/Y C3HeB/FeJ-PhexMhdabap024 MGI:6198725


Genotype
MGI:5425687
hm1
Allelic
Composition		 PhexMhdabap024/PhexMhdabap024
Genetic
Background		 C3HeB/FeJ-PhexMhdabap024
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
PhexMhdabap024 mutation (1 available); any Phex mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological

growth/size/body
decreased body size ( J:183993 )

homeostasis/metabolism

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
X-linked dominant hypophosphatemic rickets DOID:0050445 OMIM:307800
 J:183993




Genotype
MGI:6198726
ht2
Allelic
Composition		 PhexMhdabap024/Phex+
Genetic
Background		 C3HeB/FeJ-PhexMhdabap024
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
PhexMhdabap024 mutation (1 available); any Phex mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
abnormal blood homeostasis ( J:264682 )
• high circuiting intact FGF23 levels at 12 and 27 weeks of age
• however, mice show normal levels of Vitamin D
decreased circulating phosphate level ( J:264682 )
• mice are hypophosphatemic
• however, mice are normocalcemic
decreased urine calcium level ( J:264682 )
• mice show a tendency to hypocalciuria

endocrine/exocrine glands
increased activity of parathyroid ( J:264682 )
• mice exhibit hyperparathyroidism

renal/urinary system
renal/urinary system phenotype ( J:264682 )
N
• mice exhibit normal glomerular filtration rate, plasma urea and creatinine levels, and urea clearance, and no nephrocalcinosis, indicating normal kidney function
decreased urine calcium level ( J:264682 )
• mice show a tendency to hypocalciuria

cardiovascular system
cardiovascular system phenotype ( J:264682 )
N
• mice exhibit normal systolic blood pressure, normal cholesterol and high-density lipoprotein cholesterol levels in blood, no calcifications in the aorta, and no indication of left ventricular hypertrophy or cardiac fibrosis, indicating no cardiovascular disease

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
X-linked dominant hypophosphatemic rickets DOID:0050445 OMIM:307800
 J:264682




Genotype
MGI:6198725
ot3
Allelic
Composition		 PhexMhdabap024/Y
Genetic
Background		 C3HeB/FeJ-PhexMhdabap024
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
PhexMhdabap024 mutation (1 available); any Phex mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
increased urine creatinine level ( J:264682 )
• increase in urine creatinine levels
abnormal blood homeostasis ( J:264682 )
• high circuiting intact FGF23 levels at 12 and 27 weeks of age
• C-terminal FGF23 levels are higher than intact FGF23 levels
decreased circulating phosphate level ( J:264682 )
• mice are hypophosphatemic
• however, mice are normocalcemic
decreased circulating C-reactive protein level ( J:264682 )
• C-reactive protein in plasma is lower
decreased urine calcium level ( J:264682 )
• mice show a tendency to hypocalciuria
• however, mice are normophosphatauric
decreased vitamin D level ( J:264682 )
• low 1,25(OH)2D levels due to decreased synthesis rate and despite increased inactivation

endocrine/exocrine glands
increased activity of parathyroid ( J:264682 )
• mice exhibit hyperparathyroidism

immune system
decreased circulating C-reactive protein level ( J:264682 )
• C-reactive protein in plasma is lower

liver/biliary system
liver/biliary system phenotype ( J:264682 )
N
• no liver inflammation is seen

renal/urinary system
renal/urinary system phenotype ( J:264682 )
N
• mice exhibit normal glomerular filtration rate, plasma urea and creatinine levels, and urea clearance, and no nephrocalcinosis, indicating normal kidney function
increased urine creatinine level ( J:264682 )
• increase in urine creatinine levels
decreased urine calcium level ( J:264682 )
• mice show a tendency to hypocalciuria
• however, mice are normophosphatauric
oliguria ( J:264682 )
• mice excrete less urine

skeleton
abnormal compact bone morphology ( J:264682 )
• lower cortical bone mineral density

cardiovascular system
cardiovascular system phenotype ( J:264682 )
N
• mice exhibit normal cholesterol and high-density lipoprotein cholesterol levels in blood, normal cardiac function and left ventricle wall thickness, no calcifications in the aorta, and no indication of left ventricular hypertrophy, cardiac fibrosis, or cardiac inflammation, indicating no cardiovascular disease
decreased systemic arterial systolic blood pressure ( J:264682 )
• mice exhibit lower systolic blood pressure

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
X-linked dominant hypophosphatemic rickets DOID:0050445 OMIM:307800
 J:264682




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
12/10/2024
MGI 6.24 		The Jackson Laboratory