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Symbol Name ID |
Fig4
FIG4 phosphoinositide 5-phosphatase MGI:2143585 |
| Darker colors indicate more annotations |
| Human Phenotypes | Abnormal calvaria morphology |
Flat occiput |
Parietal bossing |
Decreased calvarial ossification |
Dolichocephaly |
Micrognathia |
Hypoplastic facial bones |
Decreased skull ossification |
Microcephaly |
Macrocephaly |
Wide cranial sutures |
Large fontanelles |
Abnormal digit morphology |
Aplasia of the distal phalanx of the 2nd finger |
Absent middle phalanx of 2nd finger |
Short 2nd finger |
Aplasia/Hypoplasia of the distal phalanges of the hand |
Short distal phalanx of finger |
Aplasia/Hypoplasia of the middle phalanges of the hand |
Absent thumb |
Short thumb |
Short finger |
Tapered finger |
Aplasia/Hypoplasia of the hallux |
Absent hallux |
Short toe |
Tapered toe |
Toe syndactyly |
Clinodactyly |
Cutaneous syndactyly |
Short metatarsal |
Ankle flexion contracture |
Flat acetabular roof |
Hip dislocation |
Congenital hip dislocation |
Distal arthrogryposis |
Delayed ossification of pubic rami |
Down-sloping shoulders |
Aplastic clavicle |
Short clavicles |
Hypoplastic scapulae |
Absent sternal ossification |
Kyphosis |
Anterior concavity of thoracic vertebrae |
| Disease(s) Associated with FIG4 | ||||||||||||||||||||||||||||||||||||||||||||
| bilateral parasagittal parieto-occipital polymicrogyria | ||||||||||||||||||||||||||||||||||||||||||||
| Charcot-Marie-Tooth disease type 4J | ||||||||||||||||||||||||||||||||||||||||||||
| Yunis-Varon syndrome |
| Mouse Phenotypes | long incisors |
domed cranium |
abnormal skeleton morphology |
small clavicle |
decreased length of long bones |
abnormal bone structure |
decreased trabecular bone volume |
decreased bone volume |
abnormal compact bone morphology |
decreased compact bone thickness |
abnormal osteoblast morphology |
abnormal trabecular bone morphology |
decreased bone trabecula number |
decreased trabecular bone connectivity density |
abnormal bone ossification |
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| Availability | Mouse Genotype | |||||||||||||||
| Fig4plt1/Fig4plt1 | ||||||||||||||||
| Fig4plt1/Fig4plt1 Tg(ACTB-Fig4*I41T)705Mm/0 |
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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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