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Symbol
Name
ID
Crebbp
CREB binding protein
MGI:1098280
Phenotype annotations related to skeleton
!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
Availability Mouse Genotype
Crebbptm2Pkb/Crebbptm2Pkb
CrebbpGt(U-San)112Imeg/Crebbp+
Crebbptm1Sis/Crebbp+ ! ! !

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
04/30/2024
MGI 6.23
The Jackson Laboratory