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Symbol Name ID |
Recql4
RecQ protein-like 4 MGI:1931028 |
| Darker colors indicate more annotations |
| Human Phenotypes | Frontal bossing |
Brachycephaly |
Brachyturricephaly |
Craniosynostosis |
Coronal craniosynostosis |
Bicoronal synostosis |
Lambdoidal craniosynostosis |
Sagittal craniosynostosis |
Turricephaly |
Oxycephaly |
Micrognathia |
Mandibular prognathia |
Wide anterior fontanel |
Large fontanelles |
Ulnar bowing |
Aphalangy of the hands |
Absent thumb |
Short thumb |
Oligodactyly |
Short foot |
Aplasia/Hypoplasia of the patella |
Patellar aplasia |
Patellar hypoplasia |
Aplasia/Hypoplasia of the radius |
Absent radius |
Hypoplasia of the radius |
Hypoplasia of the ulna |
Forearm undergrowth |
Aplasia of metacarpal bones |
Short humerus |
Carpal bone aplasia |
Short palm |
Small hand |
Congenital hip dislocation |
Carpal synostosis |
Limited elbow movement |
Limited shoulder movement |
Stiff interphalangeal joints |
Rib fusion |
Kyphoscoliosis |
Scoliosis |
Abnormal vertebral morphology |
Osteoporosis |
Joint dislocation |
Osteosarcoma |
| Disease(s) Associated with RECQL4 | |||||||||||||||||||||||||||||||||||||||||||||
| Baller-Gerold syndrome | |||||||||||||||||||||||||||||||||||||||||||||
| rapadilino syndrome | |||||||||||||||||||||||||||||||||||||||||||||
| Rothmund-Thomson syndrome |
| Mouse Phenotypes | growth retardation of incisors |
growth retardation of molars |
polyphalangy |
abnormal limb bone morphology |
abnormal long bone metaphysis morphology |
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| Availability | Mouse Genotype | |||||
| Recql4tm1Abe/Recql4tm1Abe | ||||||
| Recql4tm1Glu/Recql4tm1Glu | ||||||
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 04/09/2024 MGI 6.23 |
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