C3H;B6-Phex^Hpr/H

Status	Available to order
EMMA ID	EM:08406
Citation information	RRID:IMSR_EM:08406 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	C3H;B6-Phex^Hpr/H
Alternative name	Hpr
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Phex^Hpr
Gene/Transgene symbol	Phex

Information from provider

Provider	Chris Esapa
Provider affiliation	Mammalian Genetics Unit, MRC Harwell
Additional owner	MRC Harwell
Genetic information	Missense mutation in the Phex gene
Phenotypic information	Homozygous: N/A Heterozygous: Bowing of the tibia and reduction in long bone length on plain radiology. Reduced plasma phosphate concentrations in association with elevated alkaline phosphatase activity. Low bone mineral density by DEXA analysis.
References	Significant deterioration in nanomechanical quality occurs through incomplete extrafibrillar mineralization in rachitic bone: evidence from in-situ synchrotron X-ray scattering and backscattered electron imaging.;Karunaratne Angelo, Esapa Christopher R, Hiller Jennifer, Boyde Alan, Head Rosie, Bassett J H Duncan, Terrill Nicholas J, Williams Graham R, Brown Matthew A, Croucher Peter I, Brown Steve D M, Cox Roger D, Barber Asa H, Thakker Rajesh V, Gupta Himadri S, ;2012;Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research;27;876-90; 22161748 Hypophosphatemic rickets is associated with disruption of mineral orientation at the nanoscale in the flat scapula bones of rachitic mice with development.;Karunaratne A, Davis G R, Hiller J, Esapa C T, Terrill N J, Brown S D M, Cox R D, Thakker R V, Gupta H S, ;2012;Bone;51;553-62; 22609228 Symmetrically reduced stiffness and increased extensibility in compression and tension at the mineralized fibrillar level in rachitic bone.;Karunaratne A, Boyde A, Esapa C T, Hiller J, Terrill N J, Brown S D M, Cox R D, Thakker R V, Gupta H S, ;2013;Bone;52;689-98; 23128355
Homozygous fertile	not known
Homozygous viable	not known
Homozygous matings required	no
Immunocompromised	not known

Information from EMMA

Archiving centre	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

X-linked hypophosphatemia / Orphanet_89936

IMPC phenotypes (gene matching)

abnormal vertebral arch morphology / IMPC
short tail / IMPC
decreased blood urea nitrogen level / IMPC
decreased heart weight / IMPC
decreased body length / IMPC
abnormal vertebrae morphology / IMPC
decreased circulating calcium level / IMPC
thin tail / IMPC
abnormal body size / IMPC
abnormal radius morphology / IMPC
abnormal ulna morphology / IMPC
abnormal bone mineralization / IMPC
decreased circulating phosphate level / IMPC
decreased circulating amylase level / IMPC
decreased body weight / IMPC
decreased circulating triglyceride level / IMPC
increased circulating potassium level / IMPC
abnormal joint morphology / IMPC
decreased bone mineral density / IMPC
abnormal tail movements / IMPC
abnormal tibia morphology / IMPC
increased circulating alkaline phosphatase level / IMPC
increased bone mineral content / IMPC
abnormal tail morphology / IMPC

MGI phenotypes (allele matching)

decreased bone mineral density / MGI
abnormal vertebrae morphology / MGI
decreased circulating phosphate level / MGI
increased circulating alkaline phosphatase level / MGI
short femur / MGI
abnormal long bone morphology / MGI
abnormal bone structure / MGI
decreased length of long bones / MGI
increased diameter of femur / MGI

MGI phenotypes (gene matching)

decreased bone mineral density / MGI
short mandible / MGI
short premaxilla / MGI
abnormal long bone metaphysis morphology / MGI
decreased compact bone thickness / MGI
abnormal vertebrae morphology / MGI
abnormal rib morphology / MGI
decreased circulating calcium level / MGI
decreased circulating phosphate level / MGI
abnormal cranium morphology / MGI
domed cranium / MGI
short limbs / MGI
abnormal hindlimb morphology / MGI
short tail / MGI
decreased body length / MGI
decreased body weight / MGI
decreased body size / MGI
circling / MGI
abnormal gait / MGI
abnormal osteoclast physiology / MGI
abnormal intestinal absorption / MGI
postnatal growth retardation / MGI
abnormal postnatal growth/weight/body size / MGI
disproportionate dwarf / MGI
abnormal caudal vertebrae morphology / MGI
short tibia / MGI
short fibula / MGI
abnormal cranial suture morphology / MGI
abnormal bone mineralization / MGI
increased urine phosphate level / MGI
increased circulating parathyroid hormone level / MGI
abnormal joint morphology / MGI
decreased circulating alkaline phosphatase level / MGI
increased circulating alkaline phosphatase level / MGI
decreased urine calcium level / MGI
abnormal long bone epiphyseal plate morphology / MGI
short femur / MGI
rickets / MGI
increased width of hypertrophic chondrocyte zone / MGI
increased activity of parathyroid / MGI
maternal effect / MGI
abnormal long bone morphology / MGI
abnormal bone structure / MGI
small clavicle / MGI
short humerus / MGI
short radius / MGI
short ulna / MGI
short frontal bone / MGI
short nasal bone / MGI
abnormal pelvic girdle bone morphology / MGI
small vertebrae / MGI
small caudal vertebrae / MGI
decreased length of long bones / MGI
decreased bone resorption / MGI
renal/urinary system phenotype / MGI
cellular phenotype / MGI
cardiovascular system phenotype / MGI
abnormal skeleton morphology / MGI
increased diameter of femur / MGI
decreased cranium height / MGI
osteomalacia / MGI
abnormal blood homeostasis / MGI
exostosis / MGI
decreased intestinal calcium absorption / MGI
abnormal limb long bone morphology / MGI
camptomelia / MGI
abnormal obturator foramen morphology / MGI
abnormal acetabulum morphology / MGI
abnormal costochondral joint morphology / MGI

Literature references

Significant deterioration in nanomechanical quality occurs through incomplete extrafibrillar mineralization in rachitic bone: evidence from in-situ synchrotron X-ray scattering and backscattered electron imaging.;Karunaratne Angelo, Esapa Christopher R, Hiller Jennifer, Boyde Alan, Head Rosie, Bassett J H Duncan, Terrill Nicholas J, Williams Graham R, Brown Matthew A, Croucher Peter I, Brown Steve D M, Cox Roger D, Barber Asa H, Thakker Rajesh V, Gupta Himadri S, ;2012;Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research;27;876-90; 22161748
Hypophosphatemic rickets is associated with disruption of mineral orientation at the nanoscale in the flat scapula bones of rachitic mice with development.;Karunaratne A, Davis G R, Hiller J, Esapa C T, Terrill N J, Brown S D M, Cox R D, Thakker R V, Gupta H S, ;2012;Bone;51;553-62; 22609228
Symmetrically reduced stiffness and increased extensibility in compression and tension at the mineralized fibrillar level in rachitic bone.;Karunaratne A, Boyde A, Esapa C T, Hiller J, Terrill N J, Brown S D M, Cox R D, Thakker R V, Gupta H S, ;2013;Bone;52;689-98; 23128355

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C3H;B6-PhexHpr/H