Fgf23^tm1Blan
Targeted Allele Detail

Summary

• Symbol: Fgf23^tm1Blan
• Name: fibroblast growth factor 23; targeted mutation 1, Beate Lanske
• MGI ID: MGI:3512143
• Synonyms: Fgf-23^-
• Gene: Fgf23 Location: Chr6:127049865-127058371 bp, + strand Genetic Position: Chr6, 61.92 cM
• Alliance: Fgf23^tm1Blan page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:94041
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 1-3 were replaced with lacZ and a neomycin resistance gene. LacZ was cloned in frame downstream of the endogenous initiator methionine. Staining of embryos indicates the mutant gene was expressed in heterozygotes. (J:94041)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Fgf23^tm1Blan/Fgf23^tm1Blan	involves: 129 * C57BL/6
hm2	Fgf23^tm1Blan/Fgf23^tm1Blan	involves: 129/Sv * C57BL/6
hm3	Fgf23^tm1Blan/Fgf23^tm1Blan	Not Specified
cx4	Fgf23^tm1Blan/Fgf23^tm1Blan Sfrp4^tm1.1Blan/Sfrp4^tm1.1Blan	involves: 129 * C57BL/6
cx5	Fgf23^tm1Blan/Fgf23^tm1Blan Vdr^tm1Rge/Vdr^tm1Rge	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6
cx6  Disease Model	Fgf23^tm1Blan/Fgf23^tm1Blan Phex^Hyp/Y	Not Specified
cx7  Disease Model	Fgf23^tm1Blan/Fgf23^+ Phex^Hyp/Y	Not Specified

Phenotypes:

Affected Systems	hm1	hm2	hm3	cx4	cx5	cx6	cx7
show or hide all annotated terms Sex:
cardiovascular system				√
calcified artery				√
digestive/alimentary system				√
abnormal digestive system morphology				√
growth/size/body	√	√	√	√	√
epidermal cyst					√
decreased body size	√			√
decreased body weight		√	√
postnatal growth retardation			√
hematopoietic system		√
small spleen		√
homeostasis/metabolism	√	√	√	√	√	√
homeostasis/metabolism phenotype					N
increased blood urea nitrogen level		√
hypoglycemia		√
decreased circulating insulin level		√
increased circulating parathyroid hormone level					√
increased circulating alkaline phosphatase level		√	√		√
decreased circulating serum albumin level		√
improved glucose tolerance		√
abnormal mineral homeostasis			√
increased circulating calcium level		√
increased circulating phosphate level	√	√	√	√		√
immune system		√
small spleen		√
integument		√			√
epidermal cyst					√
thin skin		√
limbs/digits/tail			√			√	√
abnormal femur morphology			√			√
decreased diameter of femur						√
short femur							√
increased diameter of femur							√
long femur						√
mortality/aging	√		√	√
premature death	√		√	√
renal/urinary system				√
nephrocalcinosis				√
respiratory system		√		√
emphysema				√
abnormal bronchus morphology		√
skeleton		√	√			√	√
abnormal femur morphology			√			√
decreased diameter of femur						√
short femur							√
increased diameter of femur							√
long femur						√
decreased long bone epiphyseal plate size			√
thickened long bone epiphysis			√
abnormal long bone metaphysis morphology							√
abnormal axial skeleton morphology			√
abnormal rib morphology			√
abnormal vertebrae morphology			√
increased bone mineral content			√
decreased bone mineral density			√
decreased volumetric bone mineral density		√	√
decreased compact bone thickness		√
decreased chondrocyte number			√
abnormal bone mineralization		√	√			√
fragile skeleton			√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	cx6	cx7
autosomal dominant hypophosphatemic rickets IDs autosomal dominant hypophosphatemic rickets       DOID:0050948 OMIM:193100 Close	√
X-linked hypophosphatemic rickets IDs X-linked hypophosphatemic rickets       DOID:0050445 MESH:D053098 NCI:C85234 OMIM:307800 UMLS_CUI:C0733682 UMLS_CUI:C1845168 UMLS_CUI:C3540852 Close		√

Expression

In Structures Affected by this Mutation:

13 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Fgf23 Mutation: 18 strains or lines available

References

• Original: J:94041 Sitara D, et al., Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice. Matrix Biol. 2004 Nov;23(7):421-32
• All: 34 reference(s)