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Symbol
Name
ID
Atr
ataxia telangiectasia and Rad3 related
MGI:108028
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Micrognathia
Microcephaly
Small anterior fontanelle
Enamel hypoplasia
Clinodactyly of the 5th finger
Abnormal finger flexion crease
Cone-shaped epiphyses of the phalanges of the hand
Sandal gap
Hypoplasia of proximal fibula
Dislocated radial head
Hypoplasia of proximal radius
Hip dislocation
Elbow flexion contracture
Delayed skeletal maturation
Ivory epiphyses
11 pairs of ribs
Scoliosis
Back pain
Disease(s) Associated with ATR
pancreatic cancer
Seckel syndrome 1

Mouse Phenotypes
abnormal cranial suture morphology
abnormal fontanelle morphology
malocclusion
micrognathia
kyphosis
abnormal bone marrow morphology
decreased compact bone thickness
abnormal trabecular bone morphology
osteoporosis
Availability Mouse Genotype
Atrtm1Ofc/Atrtm1Ofc
Atrtm1Bal/Atrtm2Bal
Ndor1Tg(UBC-cre/ERT2)1Ejb/0  (conditional)

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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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory