|
Allele Symbol Allele Name Allele ID |
Fgf23tm1Blan targeted mutation 1, Beate Lanske MGI:3512143 |
||||||||||||||||||||||||||||||||
| Summary |
7 genotypes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• average life span is 8 to 12 weeks
|
|
• at 3 and 6 weeks
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• bodyweight of 4 week old mice is less than half that of controls despite being on a diet rich in calcium and lactose
|
|
• spleens of 4 week old mice are atrophied compared to controls
|
|
• serum urea levels are twice that of controls when fed a high calcium diet
|
|
• blood sugar levels are about a third lower than controls
|
|
• 9 out of 12 mice have undetectable levels of serum insulin with the 3 other mice having insulin levels well below controls
|
|
• serum calcium levels are elevated (2.97 mmol/l vs. 2.55 mmol/l) when fed a high calcium diet
|
|
• serum phosphorous levels are extremely elevated (3.38 mmol/l vs. 5.06 mmol/l) when fed a high calcium diet
|
|
• mice have levels of serum alkaline phosphatase that are 3-fold higher than controls when fed a high calcium diet
|
|
• serum albumin levels are reduced when mice are fed a high calcium diet
|
|
• mice have 30% less rise in glucose levels after a glucose challenge
|
|
• spleens of 4 week old mice are atrophied compared to controls
|
|
• diffuse calcification of the main bronchus is occasionally observed
|
|
• mice have reduced volumetric bone mineral density of the femoral shaft and femoral metaphysic
|
|
• thinning of mineralized cortical bone
|
|
• mice have reduced volumetric bone mineral density of the femoral shaft and femoral metaphysic and thinning of mineralized cortical bone
• growth plates are normal in these mice, which differentiates this phenotype from rickets
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• all mutants died by 13 weeks of age
|
|
• decreased male mean body weight (6.6 g) compared to wild-type (23.6 g) at 11 weeks
|
|
• growth retardation significant by P17
|
|
• higher alkaline phosphatase activity (990 vs. 238 U/l in wild-type)
|
|
• abnormal mineralization in various organs such as heart and kidney
|
|
• 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)
|
|
• increased osteoid formation in cortical bone
|
|
• increased osteoid formation in cortical bone
|
|
• narrowed growth plates with decreased numbers of hypertrophic chondrocytes
|
|
• mutants displayed severe axial malformations
|
|
• increased woven bone formation and accumulation of osteoid
|
|
• increased woven bone formation and accumulation of osteoid
|
|
• increased whole-body bone mineral content
|
|
• 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
|
|
• lower volumetric bone mineral density of the femoral shaft and the femoral metaphysis
|
|
• reduction of hypertrophic chondrocytes from 6-10 cell layers in wild-type to 3-5 cell layers in mutants
|
|
• 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
|
|
• bones were abnormally fragile and deformed
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• average life span is 8 to 12 weeks
|
|
• mice exhibit intestinal atrophy unlike wild-type mice
|
|
• at 3 and 6 weeks
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• the homozygous null VDR alleles almost negate the perturbed mineral homeostasis characteristic of mice with homozygote null Fgf23 alleles
|
|
• PTH levels are elevated (86 pg/ml) in these 4 week old mice fed a high calcium diet
|
|
• 4 week old mice have elevated levels of serum alkaline phosphatase compared to wild-type mice
|
|
• epidermal cysts are noticeable at 4 weeks of age
|
|
• epidermal cysts are noticeable at 4 weeks of age
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 |
• higher serum phosphate levels than in hemizygous Phex
|
|
|
• longer and thinner femurs compared to compound heterozygotes and hemizygous Phex
|
|
|
|
|
|
• longer and thinner femurs compared to compound heterozygotes and hemizygous Phex
|
|
|
|
|
|
• 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 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• extremely short and thickened femurs similar to PhexHyp hemizygotes
|
|
|
• extremely short and thickened femurs similar to PhexHyp hemizygotes
|
|
|
• extremely short and thickened femurs similar to PhexHyp hemizygotes
|
|
|
• extremely short and thickened femurs similar to PhexHyp hemizygotes
|
|
|
• exhibited cupping of the metaphysis below the growth plates
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| X-linked dominant hypophosphatemic rickets | DOID:0050445 |
OMIM:307800 |
J:94041 | |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 04/16/2024 MGI 6.23 |
|
|
|
||
Analysis Tools