C3HeB/FeJ-Col1a1Aga2/Ieg

Status

Available to order

EMMA IDEM:10876
International strain nameC3HeB/FeJ-Col1a1Aga2/Ieg
Alternative nameC3HeB/FeJ-Aga2
Strain typeInduced Mutant Strains : Chemically-induced
Allele/Transgene symbolCol1a1Aga2,
Gene/Transgene symbolCol1a1

Information from provider

ProviderMartin Hrabe de Angelis
Provider affiliationInstitut für Experimentelle Genetik, Helmholtz Zentrum München
Additional ownerProf. Eckhard Wolf, Ludwig-Maximilians-Universitaet, Munich, Germany
Genetic informationC-terminal frameshift mutation was identified in the Col1a1 (procollagen type I, alpha 1) gene
Phenotypic informationHomozygous:
not viable

Heterozygous:
reduced bone mass, multiple fractures, and early lethality
References
  • ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta.;Lisse Thomas S, Thiele Frank, Fuchs Helmut, Hans Wolfgang, Przemeck Gerhard K H, Abe Koichiro, Rathkolb Birgit, Quintanilla-Martinez Leticia, Hoelzlwimmer Gabriele, Helfrich Miep, Wolf Eckhard, Ralston Stuart H, Hrabé de Angelis Martin, ;2008;PLoS genetics;4;e7; 18248096
  • Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms.;Thiele Frank, Cohrs Christian M, Flor Armando, Lisse Thomas S, Przemeck Gerhard K H, Horsch Marion, Schrewe Anja, Gailus-Durner Valerie, Ivandic Boris, Katus Hugo A, Wurst Wolfgang, Reisenberg Catherine, Chaney Hollis, Fuchs Helmut, Hans Wolfgang, Beckers Johannes, Marini Joan C, Hrabé de Angelis Martin, ;2012;Human molecular genetics;21;3535-45; 22589248
Homozygous fertileno
Homozygous viableno
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

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

Disease and phenotype information

MGI allele-associated human disease models

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (allele matching)
  • heart right ventricle hypertrophy / MGI
  • abnormal cell morphology / MGI
  • decreased body weight / MGI
  • abnormal cardiovascular system physiology / MGI
  • abnormal blood vessel morphology / MGI
  • lung inflammation / MGI
  • abnormal blood gas level / MGI
  • rib fractures / MGI
  • abnormal myocardium layer morphology / MGI
  • decreased ventricle muscle contractility / MGI
  • abnormal heart septum morphology / MGI
  • abnormal endoplasmic reticulum morphology / MGI
  • abnormal heart electrocardiography waveform feature / MGI
  • increased QRS amplitude / MGI
  • pulmonary alveolar hemorrhage / MGI
  • postnatal lethality, incomplete penetrance / MGI
  • abnormal adipose tissue distribution / MGI
  • fragile skeleton / MGI
  • decreased bone mineral density / MGI
  • kyphoscoliosis / MGI
  • abnormal femur morphology / MGI
  • abnormal dermal layer morphology / MGI
  • decreased body length / MGI
  • decreased body size / MGI
  • hemorrhage / MGI
  • intracranial hemorrhage / MGI
  • decreased litter size / MGI
  • abnormal fibula morphology / MGI
  • increased circulating parathyroid hormone level / MGI
  • decreased circulating alkaline phosphatase level / MGI
  • short femur / MGI
  • abnormal hormone level / MGI
  • abnormal pubis morphology / MGI
  • abnormal ischium morphology / MGI
  • abnormal osteoblast morphology / MGI
  • abnormal osteoblast physiology / MGI
  • abnormal enzyme/coenzyme level / MGI
  • abnormal skeleton morphology / MGI
  • decreased diameter of femur / MGI
  • decreased bone mineral content / MGI
  • abnormal compact bone lamellar structure / MGI
  • thin neurocranium / MGI
  • increased osteoblast apoptosis / MGI
  • embryonic lethality, complete penetrance / MGI

Literature references

  • ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta.;Lisse Thomas S, Thiele Frank, Fuchs Helmut, Hans Wolfgang, Przemeck Gerhard K H, Abe Koichiro, Rathkolb Birgit, Quintanilla-Martinez Leticia, Hoelzlwimmer Gabriele, Helfrich Miep, Wolf Eckhard, Ralston Stuart H, Hrabé de Angelis Martin, ;2008;PLoS genetics;4;e7; 18248096
  • Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms.;Thiele Frank, Cohrs Christian M, Flor Armando, Lisse Thomas S, Przemeck Gerhard K H, Horsch Marion, Schrewe Anja, Gailus-Durner Valerie, Ivandic Boris, Katus Hugo A, Wurst Wolfgang, Reisenberg Catherine, Chaney Hollis, Fuchs Helmut, Hans Wolfgang, Beckers Johannes, Marini Joan C, Hrabé de Angelis Martin, ;2012;Human molecular genetics;21;3535-45; 22589248

Order

Availabilities

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

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

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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