|
Symbol Name ID |
Lbr
lamin B receptor MGI:2138281 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Frontal bossing |
Calvarial skull defect |
Micrognathia |
Retrognathia |
Hypoplasia of the maxilla |
Sclerosis of skull base |
Decreased skull ossification |
Macrocephaly |
Diaphyseal undertubulation |
Postaxial hand polydactyly |
Absent distal phalanges |
Short phalanx of finger |
Short finger |
Postaxial foot polydactyly |
Polydactyly |
Brachydactyly |
Hypoplasia of the calcaneus |
Metaphyseal cupping |
Flared metaphysis |
Short 3rd metacarpal |
Short 4th metacarpal |
Short 5th metacarpal |
Short metacarpal |
Upper limb undergrowth |
Mesomelia |
Micromelia |
Rhizomelia |
Tetraphocomelia |
Hepatic calcification |
Multiple prenatal fractures |
Recurrent fractures |
Fractured rib |
Epiphyseal stippling |
Short long bone |
Abnormal pelvis bone ossification |
Long clavicles |
Anterior rib punctate calcifications |
Costal cartilage calcification |
11 pairs of ribs |
Short ribs |
Multiple rib fractures |
Barrel-shaped chest |
Abnormal scapula morphology |
Sternal punctate calcifications |
Thoracic hypoplasia |
Narrow chest |
Kyphosis |
Horizontal sacrum |
Abnormal form of the vertebral bodies |
Hypoplastic vertebral bodies |
Platyspondyly |
Supernumerary vertebral ossification centers |
Abnormally ossified vertebrae |
Absent or minimally ossified vertebral bodies |
Punctate vertebral calcifications |
Abnormal bone ossification |
Patchy variation in bone mineral density |
Osteoporosis |
Ectopic ossification |
Lethal skeletal dysplasia |
Ectopic calcification |
Laryngeal calcification |
Tracheal calcification |
| Disease(s) Associated with LBR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Greenberg dysplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pelger-Huet anomaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| primary biliary cholangitis |
| Mouse Phenotypes | skeleton phenotype |
abnormal cranium morphology |
short tibia |
abnormal long bone epiphyseal plate morphology |
abnormal rib morphology |
scoliosis |
abnormal bone structure |
decreased bone mineral content |
decreased bone mineral density |
abnormal trabecular bone morphology |
|
| Availability | Mouse Genotype | ||||||||||
| Lbrem1(IMPC)Tcp/Lbrem1(IMPC)Tcp | |||||||||||
| LbrGt(XE569)Byg/LbrGt(XE569)Byg | |||||||||||
| Lbric-J/Lbric-J | |||||||||||
| Lbrlym3/Lbrlym3 | * | ||||||||||
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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