|
Symbol Name ID |
Nsdhl
NAD(P) dependent steroid dehydrogenase-like MGI:1099438 |
| Darker colors indicate more annotations |
| Human Phenotypes | Micrognathia |
Microretrognathia |
Retrognathia |
Malar flattening |
Microcephaly |
Abnormal digit morphology |
Aplasia of the distal phalanx of the 2nd finger |
Absent middle phalanx of 2nd finger |
Aplasia of the distal phalanx of the 3rd finger |
Absent middle phalanx of 3rd finger |
Long fingers |
Absent toe |
Long toe |
4-5 toe syndactyly |
Syndactyly |
Finger syndactyly |
2-5 finger syndactyly |
Congenital hip dislocation |
Flexion contracture |
Joint hypermobility |
Epiphyseal stippling |
Hypoplastic pelvis |
Short clavicles |
Short ribs |
Hypoplastic scapulae |
Hyperlordosis |
Lumbar hyperlordosis |
Kyphosis |
Kyphoscoliosis |
Scoliosis |
Vertebral hypoplasia |
Abnormal cortical bone morphology |
| Disease(s) Associated with NSDHL | ||||||||||||||||||||||||||||||||
| CHILD syndrome | ||||||||||||||||||||||||||||||||
| CK syndrome |
| Mouse Phenotypes | abnormal skeleton morphology |
abnormal vertebral column morphology |
kyphosis |
short vertebral column |
premature endochondral bone ossification |
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| Availability | Mouse Genotype | |||||
| NsdhlBpa-1H/Nsdhl+ | ||||||
| NsdhlBpa-3H/Nsdhl+ | ||||||
| NsdhlBpa-4H/Nsdhl+ | ||||||
| NsdhlBpa-5H/Nsdhl+ | ||||||
| NsdhlBpa-6H/Nsdhl+ | ||||||
| NsdhlStr-1H/Nsdhl+ | ||||||
| Nsdhltm1.1Hrm/Nsdhl+ Edil3Tg(Sox2-cre)1Amc/Edil3+ (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 04/16/2024 MGI 6.23 |
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