Symbol Name ID |
Crebbp
CREB binding protein MGI:1098280 |
! | Indicates phenotype varies with strain background. |
Darker colors indicate more annotations |
Human Phenotypes | Frontal bossing |
Parietal foramina |
Micrognathia |
Retrognathia |
Hypoplasia of the maxilla |
Large foramen magnum |
Microcephaly |
Delayed cranial suture closure |
Wide anterior fontanel |
Enamel hypoplasia |
Clinodactyly of the 5th finger |
Abnormal distal phalanx morphology of finger |
Broad distal phalanx of finger |
Broad thumb |
Prominent fingertip pads |
Radial deviation of thumb terminal phalanx |
Short thumb |
Broad hallux phalanx |
Duplication of phalanx of hallux |
Broad hallux |
Clubbing of toes |
Short 5th toe |
Polydactyly |
Brachydactyly |
Syndactyly |
Finger syndactyly |
Short first metatarsal |
Dislocated radial head |
Patellar dislocation |
Flexion contracture |
Joint hypermobility |
Delayed skeletal maturation |
Flared iliac wing |
Hypoplastic iliac wing |
Hip dysplasia |
Pectus excavatum |
Scoliosis |
Disease(s) Associated with CREBBP | |||||||||||||||||||||||||||||||||||||
Rubinstein-Taybi syndrome |
Mouse Phenotypes | large anterior fontanelle |
wide frontal bone |
abnormal occipital bone morphology |
supernumerary teeth |
short premaxilla |
maxilla hypoplasia |
short maxilla |
nasal bone hypoplasia |
short nasal bone |
abnormal sternum morphology |
split xiphoid process |
xiphoid process foramen |
abnormal rib morphology |
scoliosis |
abnormal vertebrae morphology |
abnormal joint morphology |
delayed bone ossification |
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Availability | Mouse Genotype | |||||||||||||||||
Crebbptm2Pkb/Crebbptm2Pkb | ||||||||||||||||||
CrebbpGt(U-San)112Imeg/Crebbp+ | ||||||||||||||||||
Crebbptm1Sis/Crebbp+ | ! | ! | ! |
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 08/02/2024 MGI 6.24 |
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