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Allele Symbol Allele Name Allele ID |
Crebbptm2Pkb targeted mutation 2, Paul K Brindle MGI:3612048 |
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| Summary |
8 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• Background Sensitivity: about 25% of homozygotes survive to maturity on this background
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• surviving homozygotes are growth retarded
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• homozygotes that survive to maturity have craniofacial defects
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit impaired long-term recognition memory but intact short-term memory
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• in the resident-intruder paradigm, mice how much less aggression than wild-type males
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• in the elevated-plus-maze experiments, mutants spend less time in the closed arm and enter the closed arm less frequently, indicating less anxiety
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• mice spend increased time self-grooming
• however, mice show a normal pain response in a hot plate assay
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• 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
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• in the wire hang assay, mice fall from the wire more quickly than controls and exhibit reduced grip strength
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• in the open-field test, mice rear more frequently
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• 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
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• mice exhibit stereotyped forelimb movements
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• in the nesting behavior assay, mice show poor nest building abilities
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• 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
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• E18.5 mutants show developmental defects in the occipital bone
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• partial penetrance of hyperdontia
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• 100% penetrance of shortened nasal bones
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• blunt snouts
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• partial penetrance of hyperdontia
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• 100% penetrance of shortened nasal bones
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• blunt snouts
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| N |
• normal lifespan after weaning
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• post-tetanic potentiation at excitatory synapses between CA3 and CA1 pyramidal neurons is enhanced
• however, basal synaptic transmission and presynaptic function are intact
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• E18.5 mutants show developmental defects in the occipital bone
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• partial penetrance of hyperdontia
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• 100% penetrance of shortened nasal bones
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• E18.5 mutants show bifurcation of the xyphoid process
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• 100% penetrance of shortened nasal bones
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autism spectrum disorder | DOID:0060041 | J:230850 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• essentially all homozygotes die shortly after birth; one homozygote out of 651 total mice survived to adulthood but was runted; at E18.5 and P0.5, homozygotes are detected at near the expected ratio
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• about 50% of homozygotes have cleft secondary palate
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• at E18.5 mutants have thickened interstitial septa
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• on a mixed background, E18.5 homozygotes have smaller lungs than wild-type or homozygous Ep300tm3Pkb mutants
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• mutants have decreased alveolar airspaces
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• about 50% of homozygotes have cleft secondary palate
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• about 50% of homozygotes have cleft secondary palate
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• there is a decrease of ~30% in number of heterozygotes seen at adulthood compared to expected
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• compound mutants are smaller than littermates
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• some compound heterozygotes have craniofacial defects
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• viable embryos can be recovered at E14.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• on a hybrid background presence of a single Crebbtm2Pkb allele decreased the median survival time by about 8-10 weeks compared to wild-type transgenic littermates
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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 04/09/2024 MGI 6.23 |
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