C3HeB/FeJ-Col1a1^Aga2/Ieg

Status	Available to order
EMMA ID	EM:10876
International strain name	C3HeB/FeJ-Col1a1^Aga2/Ieg
Alternative name	C3HeB/FeJ-Aga2
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Col1a1^Aga2
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 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 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)

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

MGI phenotypes (gene matching)

abnormal adipose tissue distribution / MGI
big ears / MGI
delayed bone ossification / MGI
fragile skeleton / MGI
increased bone mineral density / MGI
decreased bone mineral density / MGI
failure of bone resorption / MGI
osteopetrosis / MGI
kyphoscoliosis / MGI
abnormal neurocranium morphology / MGI
decreased compact bone thickness / MGI
abnormal vertebral body morphology / MGI
abnormal rib morphology / MGI
kyphosis / MGI
scoliosis / MGI
heart right ventricle hypertrophy / MGI
increased cell proliferation / MGI
abnormal cell morphology / MGI
focal hair loss / MGI
abnormal cranium morphology / MGI
abnormal maxilla morphology / MGI
abnormal digestive system morphology / MGI
abnormal forelimb morphology / MGI
abnormal femur morphology / MGI
syndactyly / MGI
oligodactyly / MGI
abnormal autopod morphology / MGI
thin tail / MGI
abnormal liver morphology / MGI
weakness / MGI
hindlimb paralysis / MGI
abnormal uterus morphology / MGI
lung hemorrhage / MGI
thick skin / MGI
skin hyperplasia / MGI
abnormal dermal layer morphology / MGI
thick dermal layer / MGI
increased body length / MGI
decreased body length / MGI
increased body weight / MGI
decreased body weight / MGI
increased body size / MGI
decreased body size / MGI
abnormal tail movements / MGI
abnormal locomotor behavior / MGI
hypoactivity / MGI
abnormal gait / MGI
abnormal motor coordination/balance / MGI
abnormal osteoclast physiology / MGI
abnormal cardiovascular system physiology / MGI
abnormal blood vessel morphology / MGI
embryonic growth arrest / MGI
lung inflammation / MGI
hemorrhage / MGI
intracranial hemorrhage / MGI
increased litter size / MGI
decreased litter size / MGI
delayed sexual maturation / MGI
respiratory distress / MGI
abnormal coat/hair pigmentation / MGI
premature death / MGI
abnormal limb morphology / MGI
abnormal digit morphology / MGI
abnormal limb bone morphology / MGI
abnormal fertility/fecundity / MGI
no abnormal phenotype detected / MGI
abnormal fibula morphology / MGI
abnormal turbinate morphology / MGI
decreased susceptibility to hepatic steatosis / MGI
abnormal blood gas level / MGI
delayed vaginal opening / MGI
decreased circulating insulin level / MGI
abnormal mechanical nociception / MGI
decreased vertical activity / MGI
abnormal dental pulp cavity morphology / MGI
coarse hair / MGI
increased growth rate / MGI
increased insulin sensitivity / MGI
abnormal bone mineralization / MGI
increased circulating parathyroid hormone level / MGI
decreased circulating alkaline phosphatase level / MGI
arthritis / MGI
abnormal bone healing / MGI
no phenotypic analysis / MGI
decreased skin tensile strength / MGI
decreased tendon stiffness / MGI
short femur / MGI
decreased susceptibility to age related obesity / MGI
aneurysm / MGI
osteoarthritis / MGI
abnormal long bone morphology / MGI
abnormal compact bone morphology / MGI
abnormal forelimb zeugopod morphology / MGI
increased hepatocyte proliferation / MGI
abnormal hormone level / MGI
increased lean body mass / MGI
decreased thermal nociceptive threshold / MGI
decreased bone mass / MGI
aortic dissection / MGI
abnormal chest morphology / MGI
abnormal pubis morphology / MGI
abnormal ischium morphology / MGI
abnormal pelvic girdle bone morphology / MGI
thin ribs / MGI
rib fractures / MGI
decreased length of long bones / MGI
abnormal vertebral column morphology / MGI
short vertebral body / MGI
increased susceptibility to age-related hearing loss / MGI
abnormal osteoblast morphology / MGI
increased osteoblast cell number / MGI
decreased bone strength / MGI
increased bone resorption / MGI
abnormal osteoblast physiology / MGI
liver hyperplasia / MGI
decreased susceptibility to injury / MGI
ocular hypertension / MGI
improved glucose tolerance / MGI
abnormal humerus morphology / MGI
abnormal enzyme/coenzyme level / MGI
abnormal myocardium layer morphology / MGI
homeostasis/metabolism phenotype / MGI
hearing/vestibular/ear phenotype / MGI
digestive/alimentary phenotype / MGI
reproductive system phenotype / MGI
skeleton phenotype / MGI
vision/eye phenotype / MGI
decreased percent body fat/body weight / MGI
abnormal skeleton morphology / MGI
decreased circulating glucose level / MGI
decreased ventricle muscle contractility / MGI
decreased susceptibility to diet-induced obesity / MGI
spinal hemorrhage / MGI
abnormal heart septum morphology / MGI
impaired hearing / MGI
decreased diameter of femur / MGI
abnormal myometrium morphology / MGI
abnormal osteoblast differentiation / MGI
abnormal cutaneous collagen fibril morphology / MGI
abnormal osteocyte morphology / MGI
fused carpal bones / MGI
delayed female fertility / MGI
small pancreatic islets / MGI
decreased trabecular bone thickness / MGI
abnormal endoplasmic reticulum morphology / MGI
abnormal aorta elastic tissue morphology / MGI
abnormal aorta tunica adventitia morphology / MGI
decreased total body fat amount / MGI
abnormal thoracic cage shape / MGI
decreased bone mineral content / MGI
abnormal heart electrocardiography waveform feature / MGI
myocardial hypertrophy / MGI
increased QRS amplitude / MGI
abnormal bone trabecula morphology / MGI
decreased bone trabecula number / MGI
decreased bone volume / MGI
decreased trabecular bone volume / MGI
pulmonary alveolar hemorrhage / MGI
abnormal compact bone lamellar structure / MGI
postnatal lethality, incomplete penetrance / MGI
neonatal lethality, complete penetrance / MGI
neonatal lethality, incomplete penetrance / MGI
prenatal lethality, complete penetrance / MGI
embryonic lethality, complete penetrance / MGI
embryonic lethality during organogenesis, complete penetrance / MGI
preweaning lethality, incomplete penetrance / MGI
abnormal bone collagen fibril morphology / MGI
abnormal tendon collagen fibril morphology / MGI
decreased neuronal stem cell self-renewal / MGI
thin body / MGI
abnormal extracellular matrix morphology / MGI
osteophytes / MGI
increased bone trabecular spacing / MGI
decreased bone trabecular spacing / MGI
decreased bone ossification / MGI
decreased bone mineralization / MGI
decreased collagen level / MGI
broad face / MGI
thick neurocranium / MGI
thin neurocranium / MGI
increased osteoblast apoptosis / MGI
abnormal dentin mineralization / MGI
increased osteocyte apoptosis / MGI
abnormal osteocyte lacuna morphology / MGI
joint contracture / MGI
atlanto-occipital joint dislocation / MGI
abnormal olecranon morphology / 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

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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^*

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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-Col1a1Aga2/Ieg