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Symbol Name ID |
Sbds
SBDS ribosome maturation factor MGI:1913961 |
| Darker colors indicate more annotations |
| Human Phenotypes | Proximal femoral epiphysiolysis |
Proximal femoral metaphyseal irregularity |
Coxa vara |
Metaphyseal chondrodysplasia |
Metaphyseal sclerosis |
Metaphyseal widening |
Delayed skeletal maturation |
Narrow greater sciatic notch |
Irregular ossification at anterior rib ends |
Enlargement of the costochondral junction |
Anterior rib cupping |
Narrow chest |
Ovoid vertebral bodies |
| Disease(s) Associated with SBDS | |||||||||||||
| Shwachman-Diamond syndrome |
| Mouse Phenotypes | abnormal bone structure |
abnormal bone marrow morphology |
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| Availability | Mouse Genotype | ||
| Sbdstm1Dats/Sbdstm1Dats Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0 (conditional) |
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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 04/23/2024 MGI 6.23 |
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