C3HeB/FeJ-Col1a2^Mhdakta47/Ieg

Status	Available to order
EMMA ID	EM:01273
Citation information	RRID:IMSR_EM:01273 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	C3HeB/FeJ-Col1a2^Mhdakta47/Ieg
Alternative name	KTA047
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Col1a2^Mhdakta47
Gene/Transgene symbol	Col1a2

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	Splice mutation of Col1a2; 4th base following exon 13: c.657+4A>G; pos. 4,518,522.
Phenotypic information	Tails of mice heterozygous for the mutation are flexible or rubbery.
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

Information from EMMA

Archiving centre	Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Ehlers-Danlos/osteogenesis imperfecta syndrome / Orphanet_230857
Osteogenesis imperfecta type 3 / Orphanet_216812
Arthrochalasia Ehlers-Danlos syndrome / Orphanet_1899
Osteogenesis imperfecta type 2 / Orphanet_216804
Cardiac-valvular Ehlers-Danlos syndrome / Orphanet_230851
Osteogenesis imperfecta type 4 / Orphanet_216820
High bone mass osteogenesis imperfecta / Orphanet_314029
Osteogenesis imperfecta type 1 / Orphanet_216796

IMPC phenotypes (gene matching)

increased bone mineral density / IMPC
decreased grip strength / IMPC
enlarged spleen / IMPC
decreased mean platelet volume / IMPC
abnormal tibia morphology / IMPC
increased bone mineral content / IMPC
dilated heart left ventricle / IMPC
increased large unstained cell number / IMPC
abnormal optic disk morphology / IMPC
increased neutrophil cell number / IMPC
increased circulating alkaline phosphatase level / IMPC
abnormal femur morphology / IMPC
enlarged heart / IMPC
decreased blood urea nitrogen level / IMPC
increased leukocyte cell number / IMPC
decreased circulating amylase level / IMPC
increased heart weight / IMPC
decreased lymphocyte cell number / IMPC
decreased total body fat amount / IMPC

MGI phenotypes (gene matching)

fragile skeleton / MGI
increased bone mineral density / MGI
decreased bone mineral density / MGI
decreased compact bone thickness / MGI
kyphosis / MGI
scoliosis / MGI
abnormal forelimb morphology / MGI
abnormal dermal layer morphology / MGI
decreased body weight / MGI
decreased body size / MGI
abnormal gait / MGI
hemorrhage / MGI
abnormal skin morphology / MGI
no abnormal phenotype detected / MGI
abnormal caudal vertebrae morphology / MGI
abnormal bone mineralization / MGI
abnormal joint morphology / MGI
decreased tendon stiffness / MGI
abnormal long bone morphology / MGI
abnormal compact bone morphology / MGI
decreased bone strength / MGI
cellular phenotype / MGI
abnormal tendon morphology / MGI
decreased bone mineral content / MGI
decreased bone trabecula number / MGI
decreased bone volume / MGI
decreased compact bone area / MGI
abnormal compact bone lamellar structure / MGI
perinatal lethality, complete penetrance / MGI
preweaning lethality, complete penetrance / MGI
camptomelia / MGI
increased volumetric bone mineral density / MGI
increased osteocyte number / MGI
abnormal knee 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

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Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*

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Practical information

Genotyping protocol

Example health report
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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.

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Legally binding conditions for the transfer

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C3HeB/FeJ-Col1a2Mhdakta47/Ieg