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Symbol
Name
ID
Lmx1b
LIM homeobox transcription factor 1 beta
MGI:1100513
Phenotype annotations related to skeleton
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Enamel hypoplasia
Abnormal digit morphology
Clinodactyly of the 5th finger
Absent distal interphalangeal creases
Contracture of the distal interphalangeal joint of the fingers
Proximal finger joint hyperextensibility
Abnormal femur morphology
Disproportionate prominence of the femoral medial condyle
Abnormal tibia morphology
Patellar aplasia
Patellar hypoplasia
Dislocated radial head
Hypoplastic radial head
Elongated radius
Achilles tendon contracture
Abnormality of the knee
Abnormal patella morphology
Patellar dislocation
Knee flexion contracture
Knee joint hypermobility
Abnormality of the elbow
Cubitus valgus
Elbow flexion contracture
Limited elbow extension
Limited pronation/supination of forearm
Antecubital pterygium
Flexion contracture
Osteochondritis dissecans
Knee pain
Iliac horns
Glenoid fossa hypoplasia
Hypoplasia of first ribs
Thickening of the lateral border of the scapula
Pectus excavatum
Lumbar hyperlordosis
Scoliosis
Back pain
Spondylolisthesis
Spondylolysis
Reduced bone mineral density
Osteoporosis
Arthritis
Disease(s) Associated with LMX1B
nail-patella syndrome

Mouse Phenotypes
skeleton phenotype
abnormal cranial suture morphology
abnormal fontanelle morphology
abnormal interparietal bone morphology
absent supraoccipital bone
absent ulna
absent patella
abnormal metacarpal bone morphology
abnormal tendon morphology
abnormal skeleton morphology
abnormal clavicle morphology
abnormal pectoral girdle bone morphology
small scapula
absent ilium
abnormal cartilage development
abnormal joint morphology
Availability Mouse Genotype
Lmx1btm1Rjo/Lmx1btm1Rjo
Lmx1btm1Rjo/Lmx1btm1Zfc
Sox9tm3(cre)Crm/Sox9+  (conditional)
*
Lmx1btm1Rjo/Lmx1btm1Zfc
Tg(Prrx1-cre)1Cjt/0  (conditional)

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
03/19/2024
MGI 6.23
The Jackson Laboratory