C3HeB/FeJ-Phex^Mhdabap024/Ieg

Status	Available to order
EMMA ID	EM:02554
International strain name	C3HeB/FeJ-Phex^Mhdabap024/Ieg
Alternative name	BAP024
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Phex^Mhdabap024
Gene/Transgene symbol	Phex

Information from provider

Provider	Martin Hrabe de Angelis
Provider affiliation	Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH)
Genetic information	Mutation in exon 22 of Phex gene, nucleotide 2197 T to C, aminoacid 733 Cys to Arg (missense).
Phenotypic information	High alkaline phosphatase, low P, low Ca.
Breeding history	More than 2 times backcrossed to C3HeB/FeJ.
References	Genome-wide, large-scale production of mutant mice by ENU mutagenesis.;Hrabé de Angelis M H, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R, ;2000;Nature genetics;25;444-7; 10932192 Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants.;Fuchs H, Schughart K, Wolf E, Balling R, Hrabé de Angelis M, ;2000;Mammalian genome : official journal of the International Mammalian Genome Society;11;528-30; 10886017 New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.;Sabrautzki Sibylle, Rubio-Aliaga Isabel, Hans Wolfgang, Fuchs Helmut, Rathkolb Birgit, Calzada-Wack Julia, Cohrs Christian M, Klaften Matthias, Seedorf Hartwig, Eck Sebastian, Benet-Pagès Ana, Favor Jack, Esposito Irene, Strom Tim M, Wolf Eckhard, Lorenz-Depiereux Bettina, Hrabě de Angelis Martin, ;2012;Mammalian genome : official journal of the International Mammalian Genome Society;23;416-30; 22527485
Homozygous fertile	not known
Homozygous viable	not known
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany
Animals used for archiving	heterozygous C3H

Disease and phenotype information

MGI allele-associated human disease models

X-linked hypophosphatemic rickets / DOID:0050445

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 circulating phosphate level / MGI
decreased body size / MGI
circling / MGI
decreased circulating alkaline phosphatase level / 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

Genome-wide, large-scale production of mutant mice by ENU mutagenesis.;Hrabé de Angelis M H, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R, ;2000;Nature genetics;25;444-7; 10932192
Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants.;Fuchs H, Schughart K, Wolf E, Balling R, Hrabé de Angelis M, ;2000;Mammalian genome : official journal of the International Mammalian Genome Society;11;528-30; 10886017
New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.;Sabrautzki Sibylle, Rubio-Aliaga Isabel, Hans Wolfgang, Fuchs Helmut, Rathkolb Birgit, Calzada-Wack Julia, Cohrs Christian M, Klaften Matthias, Seedorf Hartwig, Eck Sebastian, Benet-Pagès Ana, Favor Jack, Esposito Irene, Strom Tim M, Wolf Eckhard, Lorenz-Depiereux Bettina, Hrabě de Angelis Martin, ;2012;Mammalian genome : official journal of the International Mammalian Genome Society;23;416-30; 22527485

Information on how we integrate external resources can be found here

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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C3HeB/FeJ-PhexMhdabap024/Ieg