Phex^Pug
Chemically induced Allele Detail

Summary

• Symbol: Phex^Pug
• Name: phosphate regulating endopeptidase homolog, X-linked; pug
• MGI ID: MGI:3797014
• Gene: Phex Location: ChrX:155945071-156198282 bp, - strand Genetic Position: ChrX, 72.38 cM
• Alliance: Phex^Pug page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis created a T to C transition at nucletide 239 that resulted in an amino acid substitution of serine for phenylalanine at position 80 (F80S). This mutation is located within a potential glycosylation motif. (J:136463, J:136796)
• Inheritance: Dominant

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)
Loading...
hm1	Phex^Pug/Phex^Pug	involves: C57BL/6J
ht2	Phex^Pug/Phex^+	involves: C57BL/6J
ot3  Disease Model	Phex^Pug/Y	involves: C57BL/6J

Phenotypes:

Affected Systems	hm1	ht2	ot3
show or hide all annotated terms Sex:
cellular				√
decreased chondrocyte apoptosis				√
growth/size/body	√	√		√
decreased body size		√		√
decreased body length				√
disproportionate dwarf	√			√
homeostasis/metabolism				√
decreased circulating calcium level				√
decreased circulating phosphate level				√
limbs/digits/tail		√		√
short hindlimb		√		√
abnormal tail development				√
short tail		√		√
skeleton			√	√
decreased chondrocyte apoptosis				√
abnormal skeleton morphology				√
disorganized long bone epiphyseal plate				√
decreased bone mineral density				√
decreased bone mineral density of vertebrae			√	√
increased trabecular bone volume				√
abnormal bone mineralization				√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	ot3
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:

8 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 Phex Mutation: 22 strains or lines available

References

• Original: J:136463 Xiong X, et al., A novel Phex mutation with defective glycosylation causes hypophosphatemia and rickets in mice. J Biomed Sci. 2008 Jan;15(1):47-59
• All: 2 reference(s)