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Symbol
Name
ID
Recql4
RecQ protein-like 4
MGI:1931028
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Micrognathia
Mandibular prognathia
Frontal bossing
Brachyturricephaly
Coronal craniosynostosis
Bicoronal synostosis
Lambdoidal craniosynostosis
Sagittal craniosynostosis
Aphalangy of the hands
Aplasia/Hypoplasia of the thumb
Absent thumb
Short thumb
Short foot
Aplasia/Hypoplasia of the patella
Patellar hypoplasia
Hypoplasia of the radius
Hypoplasia of the ulna
Ulnar bowing
Aplasia/Hypoplasia of the radius
Absent radius
Short humerus
Aplasia of metacarpal bones
Carpal bone aplasia
Short palm
Small hand
Congenital hip dislocation
Carpal synostosis
Limited elbow movement
Limited shoulder movement
Rib fusion
Abnormal vertebral morphology
Kyphoscoliosis
Scoliosis
Osteoporosis
Stiff interphalangeal joints
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
Availability Mouse Genotype
Recql4tm1Abe/Recql4tm1Abe
Recql4tm1Glu/Recql4tm1Glu

Contributing Projects:
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
02/18/2020
MGI 6.14
The Jackson Laboratory