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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Col1a1
collagen, type I, alpha 1
MGI:88467
154 phenotypes from 16 alleles in 16 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Col1a1Aga2/Col1a1+
C3HeB/FeJ-Col1a1Aga2 		abnormal blood gas level J:185988
abnormal blood vessel morphology J:185988
abnormal cardiovascular system physiology J:185988
abnormal cell morphology J:185988
abnormal endoplasmic reticulum morphology J:185988
abnormal Golgi apparatus morphology J:185988
abnormal heart electrocardiography waveform feature J:185988
abnormal heart septum morphology J:185988
abnormal myocardium layer morphology J:185988
decreased body weight J:185988
decreased heart left ventricle muscle contractility J:185988
heart right ventricle hypertrophy J:185988
increased QRS amplitude J:185988
lung inflammation J:185988
postnatal lethality, incomplete penetrance J:185988
pulmonary alveolar hemorrhage J:185988
rib fractures J:185988
Col1a1Aga2/Col1a1+
involves: C3HeB/FeJ * C57BL/6J 		abnormal adipose tissue distribution J:129569
abnormal compact bone lamellar structure J:129569
abnormal dermal layer morphology J:129569
abnormal enzyme/coenzyme level J:129569
abnormal femur morphology J:129569
abnormal fibula morphology J:129569
abnormal hormone level J:129569
abnormal ischium morphology J:129569
abnormal osteoblast morphology J:129569
abnormal osteoblast physiology J:129569
abnormal pubis morphology J:129569
abnormal skeleton morphology J:129569
decreased body length J:129569
decreased body size J:129569
decreased body weight J:129569
decreased bone mineral content J:129569
decreased bone mineral density J:129569
decreased circulating alkaline phosphatase level J:129569
decreased diameter of femur J:129569
decreased litter size J:129569
fragile skeleton J:129569
hemorrhage J:129569
increased circulating parathyroid hormone level J:129569
increased osteoblast apoptosis J:129569
intracranial hemorrhage J:129569
kyphoscoliosis J:129569
postnatal lethality, incomplete penetrance J:129569
short femur J:129569
thin neurocranium J:129569
Col1a1Aga2/Col1a1Aga2
involves: C3HeB/FeJ * C57BL/6J 		embryonic lethality, complete penetrance J:129569
Col1a1m1Btlr/Col1a1m1Btlr
C57BL/6J-Col1a1m1Btlr 		abnormal autopod morphology J:253622
abnormal bone collagen fibril morphology J:253622
abnormal femur morphology J:253622
abnormal gait J:132554
abnormal locomotor behavior J:253622
abnormal tibia morphology J:253622
abnormal trabecular bone morphology J:253622
decreased body weight J:253622
decreased bone mass J:132554
decreased compact bone thickness J:253622
decreased hydroxyproline level J:253622
decreased length of long bones J:253622
fragile skeleton J:253622
hemorrhage J:132554
hindlimb paralysis J:132554, J:253622
short limbs J:253622
spinal hemorrhage J:132554
Col1a1M1Jrt/Col1a1+
involves: C3H/HeJ * C57BL/6J 		abnormal motor coordination/balance J:216423
decreased bone mineral density J:216423
fragile skeleton J:216423
weakness J:216423
Col1a1M1Jrt/Col1a1+
involves: C3H/HeJ * C57BL/6J * FVB/NJ 		abnormal bone collagen fibril morphology J:216423
abnormal bone mineralization J:216423
abnormal bone trabecula morphology J:216423
abnormal compact bone morphology J:216423
abnormal cutaneous collagen fibril morphology J:216423
abnormal dentin mineralization J:216423
abnormal extracellular matrix morphology J:216423
abnormal femur morphology J:216423
abnormal fertility/fecundity J:216423
abnormal gait J:216423
abnormal osteoblast morphology J:216423
abnormal tail movements J:216423
abnormal tendon collagen fibril morphology J:216423
decreased body size J:216423
decreased body weight J:216423
decreased bone mineral content J:216423
decreased bone mineral density J:216423
decreased bone strength J:216423
decreased bone trabecula number J:216423
decreased bone trabecular spacing J:216423
decreased collagen level J:216423
decreased percent body fat/body weight J:216423
decreased skin tensile strength J:216423
decreased tendon stiffness J:216423
decreased trabecular bone thickness J:216423
decreased trabecular bone volume J:216423
fragile skeleton J:216423
normal hearing/vestibular/ear phenotype J:216423
normal homeostasis/metabolism phenotype J:216423
increased bone resorption J:216423
increased bone trabecular spacing J:216423
increased osteoblast cell number J:216423
kyphosis J:216423
myocardium hypertrophy J:216423
osteoarthritis J:216423
thin body J:216423
thin tail J:216423
Col1a1M1Jrt/Col1a1+
involves: C57BL/6 * FVB/N 		abnormal autopod morphology J:228439
abnormal bone healing J:228439
abnormal locomotor behavior J:228439
abnormal mechanical nociception J:228439
abnormal olecranon morphology J:228439
abnormal pelvic girdle bone morphology J:228439
abnormal vertebral column morphology J:228439
atlanto-occipital joint dislocation J:228439
autoimmune arthritis J:228439
decreased body weight J:228439
decreased bone trabecula number J:228439
decreased bone volume J:228439
decreased compact bone thickness J:228439
decreased length of long bones J:228439
decreased locomotor activity J:228439
decreased thermal nociceptive threshold J:228439
decreased vertical activity J:228439
fragile skeleton J:228439
osteophytes J:228439
scoliosis J:228439
short femur J:228439
Col1a1M1Jrt/Col1a1M1Jrt
involves: C3H/HeJ * C57BL/6J 		prenatal lethality, complete penetrance J:216423
Col1a1Mov13/Col1a1+
C57BL/6-Col1a1Mov13 		abnormal coat/hair pigmentation J:6514
Col1a1Mov13/Col1a1+
involves: C57BL/6 		abnormal compact bone lamellar structure J:107045
abnormal compact bone morphology J:107045
abnormal dermal layer morphology J:107045
fragile skeleton J:107045
impaired hearing J:107045
increased susceptibility to age-related hearing loss J:107045
Col1a1Mov13/Col1a1Mov13
C57BL/6-Col1a1Mov13 		decreased bone ossification J:16630
delayed bone ossification J:16630
Col1a1Mov13/Col1a1Mov13
involves: C57BL/6 		embryonic growth arrest J:6979
embryonic lethality during organogenesis, complete penetrance J:6979
Col1a1tm1(tetO-cas9)Sho/Col1a1tm1(tetO-cas9)Sho
B6.Cg-Col1a1tm1(tetO-cas9)Sho 		no abnormal phenotype detected J:101977
Col1a1tm1(tetO-mCherry)Eggn/Col1a1tm1(tetO-mCherry)Eggn
involves: 129S4/SvJae * C57BL/6 		no abnormal phenotype detected J:167431
Col1a1tm1.1Jcm/Col1a1+
either: (involves: 129X1/SvJ * C3H/HeJ) or (involves: 129X1/SvJ * CD-1) 		abnormal chest morphology J:59168
abnormal cranium morphology J:59168
abnormal dental pulp cavity morphology J:59168
abnormal ischium morphology J:59168
abnormal limb morphology J:59168
abnormal long bone morphology J:59168
abnormal maxilla morphology J:59168
abnormal neurocranium morphology J:59168
abnormal pelvic girdle bone morphology J:59168
abnormal rib morphology J:59168
abnormal thoracic cage shape J:59168
abnormal turbinate morphology J:59168
abnormal vertebral body morphology J:59168
decreased body size J:59168
decreased bone mineralization J:59168
lung hemorrhage J:59168
neonatal lethality, incomplete penetrance J:59168
respiratory distress J:59168
rib fractures J:59168
thin neurocranium J:59168
thin ribs J:59168
Col1a1tm1.1Jcm/Col1a1+
involves: 129X1/SvJ 		abnormal neurocranium morphology J:59168
decreased body size J:59168
decreased bone mineralization J:59168
neonatal lethality, incomplete penetrance J:59168
respiratory distress J:59168
rib fractures J:59168
short vertebral body J:59168
Col1a1tm1Bst/Col1a1tm1Bst
involves: 129P2/OlaHsd * C57BL/6 		abnormal aorta elastic tissue morphology J:92016
abnormal aorta tunica adventitia morphology J:92016
aneurysm J:92016
aortic dissection J:92016
hemorrhage J:92016
premature death J:92016
Col1a1tm1Dab/Col1a1tm1Dab
C.129S6-Col1a1tm1Dab 		abnormal liver morphology J:170561
decreased susceptibility to injury J:170561
Col1a1tm1Jae/Col1a1+
either: (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6) 		abnormal uterus morphology J:26504
decreased litter size J:26504
focal hair loss J:26504
thick dermal layer J:26504
Col1a1tm1Jae/Col1a1tm1Jae
either: (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6) 		abnormal myometrium morphology J:26504
abnormal uterus morphology J:26504
decreased litter size J:26504
focal hair loss J:26504
thick dermal layer J:26504
Col1a1tm1Jae/Col1a1tm1Jae
involves: 129S4/SvJae * C57BL/6 		abnormal limb bone morphology J:53079
abnormal neurocranium morphology J:90884
abnormal osteoblast differentiation J:85591, J:90884
abnormal osteoclast physiology J:53079
abnormal osteocyte lacuna morphology J:90884
abnormal osteocyte morphology J:90884
decreased body weight J:82606
failure of bone resorption J:85591
increased osteoblast apoptosis J:90884
increased osteocyte apoptosis J:90884
joint contracture J:53079
ocular hypertension J:82606
osteopetrosis J:85591
normal skeleton phenotype J:85591
thick neurocranium J:90884
normal vision/eye phenotype J:82606
Col1a1tm1Jcm/Col1a1+
either: (involves: 129X1/SvJ * C3H/HeJ) or (involves: 129X1/SvJ * CD-1) 		abnormal neurocranium morphology J:59168
neonatal lethality, complete penetrance J:59168
respiratory distress J:59168
rib fractures J:59168
short vertebral body J:59168
Col1a1tm2.1Bst/Col1a1tm2.1Bst
involves: 129/Sv * 129P2/OlaHsd 		preweaning lethality, incomplete penetrance J:73906
Col1a1tm17(tetO-GFP,-cas9*)Slowe/Col1a1+
involves: 129S4/SvJae * C57BL/6 		normal digestive/alimentary phenotype J:222595
Col1a1tm18(tetO-GFP,-cas9*)Slowe/Col1a1+
involves: 129S4/SvJae * C57BL/6 		normal digestive/alimentary phenotype J:222595
Col1a1tm19(tetO-GFP,-cas9*)Slowe/Col1a1+
involves: 129S4/SvJae * C57BL/6 		normal digestive/alimentary phenotype J:222595
Col1a1tm20(tetO-GFP,-cas9*D10A)Slowe/Col1a1+
involves: 129S4/SvJae * C57BL/6 		normal digestive/alimentary phenotype J:222595
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory