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Symbol
Name
ID
Fig4
FIG4 phosphoinositide 5-phosphatase
MGI:2143585
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Distal arthrogryposis
Ankle contracture
Micrognathia
Hypoplastic facial bones
Decreased skull ossification
Microcephaly
Dolichocephaly
Large fontanelles
Aplasia/Hypoplasia of the distal phalanges of the hand
Aplasia/Hypoplasia of the middle phalanges of the hand
Absent thumb
Short finger
Tapered finger
Aplasia/Hypoplasia of the hallux
Short toe
Tapered toe
Toe syndactyly
Hip dislocation
Aplastic clavicles
Short clavicles
Abnormality of the scapula
Absent sternal ossification
Disease(s) Associated with FIG4
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
Availability Mouse Genotype
Fig4plt1/Fig4plt1
Fig4plt1/Fig4plt1
Tg(ACTB-Fig4*I41T)705Mm/0

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory