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Phenotypes Associated with This Genotype
Genotype
MGI:2175796
Allelic
Composition
Crebbptm1Sis/Crebbp+
Genetic
Background
either: (involves: BALB/c * C57BL/6 * CBA) or (involves: C57BL/6 * CBA)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crebbptm1Sis mutation (1 available); any Crebbp mutation (56 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Skeletal formation defects in Crebbptm1Sis/Crebbp+ mice

growth/size/body
• Background Sensitivity: 1/3 of heterozygotes exhibit growth retardation in the mixed BALB/c, C57BL/6, and CBA background while growth retardation is milder on the mixed C57BL/6 and CBA background

skeleton
• Background Sensitivity: seen in 66% of heterozygotes on the mixed BALB/c, C57BL/6 and CBA background and in 25% of heterozygotes on a mixed C57BL/6 and CBA background
• Background Sensitivity: 1/3 of heterozygotes exhibit various sternum abnormalities (extra, fusion, reduction, and asymmetry of the ossification with split in the sternum) on a mixed BALB/c, C57BL/6 and CBA background, while penetrance is significantly lower on the mixed C57BL/6 and CBA background
• Background Sensitivity: 29% of heterozygotes on the mixed BALB/c, C57BL/6, and CBA background exhibit distinct holes and fissures in the xiphoid process while 66% of heterozygotes on the mixed C57BL/6 and CBA background display xiphoid defects
• low frequency of rib abnormalities
• incomplete penetrance on the mixed BALB/c, C57BL/6, and CBA background
• asymmetric cervical vertebrae, extra and split thoracic vertebrae, and scoliosis are observed on the mixed BALB/c, C57BL/6, and CBA background
• 1/3 of heterozygotes on a mixed BALB/c, C57BL/6 and CBA background have asymmetric sternocostal joints
• delayed ossification of frontal bones on a mixed BALB/c, C57BL/6 and CBA background

limbs/digits/tail
• low penetrance of limb abnormalities, however did not observe broad thumbs or broad halluces

craniofacial
• Background Sensitivity: seen in 66% of heterozygotes on the mixed BALB/c, C57BL/6 and CBA background and in 25% of heterozygotes on a mixed C57BL/6 and CBA background

cardiovascular system
N
• heterozygotes do not exhibit any of the cardiac anomalies observed in Rubinstein-Taybi Syndrome

Mouse Models of Human Disease
OMIM ID Ref(s)
Rubinstein-Taybi Syndrome 1; RSTS1 180849 J:42932


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory