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Allele Symbol Allele Name Allele ID |
Cdkn1ctm1Sje targeted mutation 1, SJ Elledge MGI:1861811 |
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| Summary |
7 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• increased mitosis at E14.5 but not later or at E13.5
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• increased mitosis at E14.5 but not later or at E13.5
• increased apoptosis as well
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• about 10% die between E13 and E16
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• no homozygotes survive to 2 weeks of age
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• failure of the palate to fuse is observed at E20
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• small intestine sometimes outside of the body wall
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• E18 mutants 10% shorter than control although skeletal length is normal
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• failure of the palate to fuse is observed at E20
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• found in front of the liver at E18.5
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• found in front of the liver at E18.5
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• abnormal musculature of the body wall, failing to approach the mid ventral line at the level of the umbilicus
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• difficulty breathing in all neonates
• milk found in the lungs
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• failure of the palate to fuse is observed at E20
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| N |
• glomeruli are normal at all stages of maturation
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• abnormal development at E16.5 and later
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• fewer than normal renal tubules (loops of Henle and collecting ducts)
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• limb bones are shorter and thicker
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• columnar alignment of chondrocytes somewhat disorganized
• thinner hypertrophic zone
• higher rate of cell division in resting and proliferative chondrocytes at E15
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• delayed fusion and ossification
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• 10 fold increase of apoptosis in the anterior epithelial compartment
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• lens vacuolation by E15.5
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• 10 fold increase of apoptosis in the anterior epithelial compartment
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Beckwith-Wiedemann syndrome | DOID:5572 |
OMIM:130650 |
J:40203 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice that maternally inherit the mutant allele do not survive to adulthood
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• embryos with the maternally inherited allele die neonatally
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• expression of brown adipose development and function genes are altered in embryos with the maternally inherited allele, indicating compromised brown adipose tissue development
• interscapular brown adipose tissue shows disorganized morphology with large areas of lipid in E18.5 fetuses with the materanally inherited allele
• mitochondrial DNA content of interscapular brown adipose tissue in embryos with the maternally inherited allele is 40% less than the wild-type level
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• E18.5 embryos with the maternally inherited allele have poorly discernable interscapular brown adipose tissue depots lacking the characteristic butterfly shape normally seen at this stage
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• E18.5 embryos with the maternally inherited allele have poorly discernable interscapular brown adipose tissue depots lacking the characteristic butterfly shape normally seen at this stage
• interscapular brown adipose tissue shows disorganized morphology with large areas of lipid at E18.5
• mitochondrial DNA content of interscapular brown adipose tissue is 40% less than the wild-type level
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• present at expected numbers at E16.5
• 30% die in utero before birth when Cdkn1ctm1Sje is maternally inherited
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• half expected numbers survive to 2 weeks of age
• Background Sensitivity: significant improvement in survival beyond day 1 of heterozygotes inheriting a maternal mutant when on an outbred CD1 background
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• significantly enlarged and displaying cytomegaly
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• paternal allele is transcriptionally repressed
• no abnormal phenotype in crosses between heterozygous males and wild-type females
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice that maternally inherit the mutant Cdkn1c allele do survive to adulthood
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• paternal transmission of the deletion mutation leads to the paternal allelic expression of the Cdkn1c gene and prevents the postnatal lethality phenotype associated with Cdkn1c heterozygotes that paternally inherit the wild-type allele
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• normal numbers at E16.5
• 65% die before birth
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• no live births when Cdkn1ctm1Sje is maternally inherited
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• fewer and shorter myotubes in the hind limb
• nuclei in myotubes larger and abnormal in shape
• increased apoptosis
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• severely reduced in size
• thinner
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• reduced intercostals muscles
• reduced head muscles
• body wall musculature severely reduced
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• distal air sacs fail to differentiate
• primitive alveoli do not develop
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• luminal space is reduced
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• luminal space is reduced
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• ribs join the sternum at a wider than normal angle (90o)
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• 9th rib usually
• sometimes also the 7th rib
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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 04/16/2024 MGI 6.23 |
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