Symbol Name ID |
Amer1
APC membrane recruitment 1 MGI:1919595 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Frontal bossing |
Flat occiput |
Brachycephaly |
Facial hyperostosis |
Thickened calvaria |
Micrognathia |
Retrognathia |
Paranasal sinus hypoplasia |
Craniofacial osteosclerosis |
Sclerosis of skull base |
Macrocephaly |
Delayed cranial suture closure |
Delayed closure of the anterior fontanelle |
Large fontanelles |
Clinodactyly of the 5th finger |
Arachnodactyly |
Flexion contracture of toe |
Fibular aplasia |
Fibular hypoplasia |
Abnormal metaphysis morphology |
Coarse metaphyseal trabecularization |
Osteopathia striata |
Joint contracture of the hand |
Camptodactyly |
High iliac wing |
Large iliac wing |
Straight clavicles |
Broad ribs |
Asymmetry of the thorax |
Pectus excavatum |
Thoracolumbar kyphosis |
Hyperlordosis |
Scoliosis |
Increased bone mineral density |
Osteopetrosis |
Cerebral calcification |
Disease(s) Associated with AMER1 | ||||||||||||||||||||||||||||||||||||
osteopathia striata with cranial sclerosis |
Mouse Phenotypes | skeleton phenotype |
abnormal osteoblast differentiation |
abnormal cranial suture morphology |
enlarged cranium |
increased cranium width |
abnormal neurocranium morphology |
large fontanelles |
enlarged neurocranium |
abnormal deltoid tuberosity morphology |
absent deltoid tuberosity |
bowed radius |
increased radius size |
abnormal ulna morphology |
bowed ulna |
abnormal skeleton morphology |
abnormal appendicular skeleton morphology |
abnormal long bone morphology |
abnormal sternum morphology |
abnormal sternum ossification |
abnormal bone structure |
increased bone mineral density |
increased bone volume |
abnormal compact bone morphology |
increased osteoblast cell number |
abnormal trabecular bone morphology |
increased trabecular bone thickness |
osteosclerosis |
abnormal skeleton development |
abnormal bone mineralization |
delayed bone mineralization |
increased bone mineralization |
abnormal endochondral bone ossification |
delayed endochondral bone ossification |
abnormal intramembranous bone ossification |
delayed intramembranous bone ossification |
delayed fontanelle closure |
increased bone ossification |
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Availability | Mouse Genotype | |||||||||||||||||||||||||||||||||||||
Amer1tm1.2Nbar/Amer1+ | ||||||||||||||||||||||||||||||||||||||
Amer1tm1.2Nbar/Y | ||||||||||||||||||||||||||||||||||||||
Amer1tm1.1Nbar/Y Tg(Prrx1-cre)1Cjt/0 (conditional) |
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Amer1tm1.1Nbar/Y Tg(Col2a1-cre)1Bhr/0 (conditional) |
* | |||||||||||||||||||||||||||||||||||||
Amer1tm1.1Nbar/Y Tg(BGLAP-cre)1Clem/0 (conditional) |
* | |||||||||||||||||||||||||||||||||||||
Amer1tm1.1Nbar/Y Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0 (conditional) |
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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last database update 04/16/2024 MGI 6.23 |
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