Phenotypes Associated with This Genotype

Genotype
MGI:5766814

• Allelic Composition: Crebbp^tm2Pkb/Crebbp^tm2Pkb
• Genetic Background: (B6.129P2-Crebbp^tm2Pkb/Pkb x 129S2.129P2(B6)-Crebbp^tm2Pkb/Pkb)F1

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

impaired long-term object recognition memory ( J:230850 )

• mice exhibit impaired long-term recognition memory but intact short-term memory

decreased aggression towards male mice ( J:230850 )

• in the resident-intruder paradigm, mice how much less aggression than wild-type males

decreased anxiety-related response ( J:230850 )

• in the elevated-plus-maze experiments, mutants spend less time in the closed arm and enter the closed arm less frequently, indicating less anxiety

increased grooming behavior ( J:230850 )

• mice spend increased time self-grooming

• however, mice show a normal pain response in a hot plate assay

impaired coordination ( J:230850 )

• although mutants show normal latency to fall from an accelerating rotard, when the rod is modified with tape to reduce surface friction, mutants fall sooner when they walk with, but not against, the direction of the rotating rod, suggesting impaired motor function

decreased grip strength ( J:230850 )

• in the wire hang assay, mice fall from the wire more quickly than controls and exhibit reduced grip strength

increased vertical activity ( J:230850 )

• in the open-field test, mice rear more frequently

increased locomotor activity ( J:230850 )

• in the open-field test, mice travel father than wild-type mice, rear more frequently, and spend more time in the central zone, indicating hyperactivity

increased stereotypic behavior ( J:230850 )

• mice exhibit stereotyped forelimb movements

abnormal nest building behavior ( J:230850 )

• in the nesting behavior assay, mice show poor nest building abilities

abnormal social investigation ( J:230850 )

• mice spend less time interacting with a mouse introduced into the chamber and show reduced preference for a novel versus a familiar mouse, indicating impaired social interaction

craniofacial

abnormal occipital bone morphology ( J:230850 )

• E18.5 mutants show developmental defects in the occipital bone

supernumerary teeth ( J:230850 )

• partial penetrance of hyperdontia

short nasal bone ( J:230850 )

• 100% penetrance of shortened nasal bones

flattened snout ( J:230850 )

• blunt snouts

growth/size/body

supernumerary teeth ( J:230850 )

• partial penetrance of hyperdontia

short nasal bone ( J:230850 )

• 100% penetrance of shortened nasal bones

flattened snout ( J:230850 )

• blunt snouts

decreased body size ( J:230850 )

mortality/aging

mortality/aging ( J:230850 )

N • normal lifespan after weaning

nervous system

increased post-tetanic potentiation ( J:230850 )

• post-tetanic potentiation at excitatory synapses between CA3 and CA1 pyramidal neurons is enhanced

• however, basal synaptic transmission and presynaptic function are intact

skeleton

abnormal occipital bone morphology ( J:230850 )

• E18.5 mutants show developmental defects in the occipital bone

supernumerary teeth ( J:230850 )

• partial penetrance of hyperdontia

short nasal bone ( J:230850 )

• 100% penetrance of shortened nasal bones

split xiphoid process ( J:230850 )

• E18.5 mutants show bifurcation of the xyphoid process

respiratory system

short nasal bone ( J:230850 )

• 100% penetrance of shortened nasal bones

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:230850