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Symbol
Name
ID
Recql4
RecQ protein-like 4
MGI:1931028
Phenotype annotations related to limbs/digits/tail
Darker colors indicate more annotations
Human Phenotypes
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
Talipes equinovarus
Congenital hip dislocation
Forearm reduction defects
Carpal synostosis
Radial deviation of the hand
Limited elbow movement
Disease(s) Associated with RECQL4
Baller-Gerold syndrome
rapadilino syndrome
Rothmund-Thomson syndrome

Mouse Phenotypes
abnormal tail pigmentation
polyphalangy
preaxial polydactyly
short forelimb
abnormal limb bone morphology
Availability Mouse Genotype
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
04/23/2024
MGI 6.23
The Jackson Laboratory