- 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
C3HeB/FeJ-Col1a1Aga2/Ieg
Status | Available to order |
EMMA ID | EM:10876 |
International strain name | C3HeB/FeJ-Col1a1Aga2/Ieg |
Alternative name | C3HeB/FeJ-Aga2 |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Col1a1Aga2, |
Gene/Transgene symbol | Col1a1 |
Information from provider
Provider | Martin Hrabe de Angelis |
Provider affiliation | Institut für Experimentelle Genetik, Helmholtz Zentrum München |
Additional owner | Prof. Eckhard Wolf, Ludwig-Maximilians-Universitaet, Munich, Germany |
Genetic information | C-terminal frameshift mutation was identified in the Col1a1 (procollagen type I, alpha 1) gene |
Phenotypic information | Homozygous:not viableHeterozygous:reduced bone mass, multiple fractures, and early lethality |
References |
|
Homozygous fertile | no |
Homozygous viable | no |
Homozygous matings required | no |
Immunocompromised | no |
Information from EMMA
Archiving centre | Helmholtz 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
- Ehlers-Danlos/osteogenesis imperfecta syndrome / Orphanet_230857
- Osteogenesis imperfecta type 3 / Orphanet_216812
- Arthrochalasia Ehlers-Danlos syndrome / Orphanet_1899
- Classical Ehlers-Danlos syndrome / Orphanet_287
- Osteogenesis imperfecta type 2 / Orphanet_216804
- Osteogenesis imperfecta type 4 / Orphanet_216820
- Caffey disease / Orphanet_1310
- High bone mass osteogenesis imperfecta / Orphanet_314029
- Osteogenesis imperfecta type 1 / Orphanet_216796
MGI phenotypes (allele matching)
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
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