About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cdkn1ctm1Sje
targeted mutation 1, SJ Elledge
MGI:1861811
Summary 7 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cdkn1ctm1Sje/Cdkn1ctm1Sje either: (involves: 129S7/SvEvBrd * C57BL/6) or (involves: 129S7/SvEvBrd * ICR) MGI:3713334
hm2
Cdkn1ctm1Sje/Cdkn1ctm1Sje involves: 129S7/SvEvBrd * C57BL/6 MGI:2175768
ht3
Cdkn1ctm1Sje/Cdkn1c+ involves: 129 * C57BL/6 MGI:3773050
ht4
Cdkn1ctm1Sje/Cdkn1c+ involves: 129S2/SvHsd * 129S7/SvEvBrd MGI:5825065
ht5
Cdkn1ctm1Sje/Cdkn1c+ involves: 129S7/SvEvBrd * C57BL/6 MGI:3713333
cx6
Cdkn1ctm1Sje/Cdkn1c+
Kcnq1ot1tm1Tilg/Kcnq1ot1+
involves: 129 * C57BL/6 MGI:3773051
cx7
Cdkn1atm1Led/Cdkn1atm1Led
Cdkn1ctm1Sje/Cdkn1c+
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6 MGI:3713335


Genotype
MGI:3713334
hm1
Allelic
Composition
Cdkn1ctm1Sje/Cdkn1ctm1Sje
Genetic
Background
either: (involves: 129S7/SvEvBrd * C57BL/6) or (involves: 129S7/SvEvBrd * ICR)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn1ctm1Sje mutation (1 available); any Cdkn1c mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• increased mitosis at E14.5 but not later or at E13.5
• increased mitosis at E14.5 but not later or at E13.5
• increased apoptosis as well




Genotype
MGI:2175768
hm2
Allelic
Composition
Cdkn1ctm1Sje/Cdkn1ctm1Sje
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn1ctm1Sje mutation (1 available); any Cdkn1c mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no homozygotes survive to 2 weeks of age

growth/size/body
• failure of the palate to fuse is observed at E20
• air found in the stomach and intestines causing inflation
• small intestine sometimes outside of the body wall
• E18 mutants 10% shorter than control although skeletal length is normal

digestive/alimentary system
• failure of the palate to fuse is observed at E20
• found in front of the liver at E18.5
• found in front of the liver at E18.5
• air found in the stomach and intestines causing inflation

muscle
• abnormal musculature of the body wall, failing to approach the mid ventral line at the level of the umbilicus

respiratory system
• difficulty breathing in all neonates
• milk found in the lungs

craniofacial
• failure of the palate to fuse is observed at E20

renal/urinary system
N
• glomeruli are normal at all stages of maturation
• abnormal development at E16.5 and later
• fewer than normal renal tubules (loops of Henle and collecting ducts)

skeleton
• limb bones are shorter and thicker
• columnar alignment of chondrocytes somewhat disorganized
• thinner hypertrophic zone
• higher rate of cell division in resting and proliferative chondrocytes at E15
• delayed fusion and ossification

vision/eye
• 10 fold increase of apoptosis in the anterior epithelial compartment
• lens vacuolation by E15.5

cellular
• 10 fold increase of apoptosis in the anterior epithelial compartment

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Beckwith-Wiedemann syndrome DOID:5572 OMIM:130650
J:40203




Genotype
MGI:3773050
ht3
Allelic
Composition
Cdkn1ctm1Sje/Cdkn1c+
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn1ctm1Sje mutation (1 available); any Cdkn1c mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice that maternally inherit the mutant allele do not survive to adulthood




Genotype
MGI:5825065
ht4
Allelic
Composition
Cdkn1ctm1Sje/Cdkn1c+
Genetic
Background
involves: 129S2/SvHsd * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn1ctm1Sje mutation (1 available); any Cdkn1c mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• embryos with the maternally inherited allele die neonatally

adipose tissue
• 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
• 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
• 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




Genotype
MGI:3713333
ht5
Allelic
Composition
Cdkn1ctm1Sje/Cdkn1c+
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn1ctm1Sje mutation (1 available); any Cdkn1c mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• present at expected numbers at E16.5
• 30% die in utero before birth when Cdkn1ctm1Sje is maternally inherited
• 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

endocrine/exocrine glands
• significantly enlarged and displaying cytomegaly

cellular
• paternal allele is transcriptionally repressed
• no abnormal phenotype in crosses between heterozygous males and wild-type females




Genotype
MGI:3773051
cx6
Allelic
Composition
Cdkn1ctm1Sje/Cdkn1c+
Kcnq1ot1tm1Tilg/Kcnq1ot1+
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn1ctm1Sje mutation (1 available); any Cdkn1c mutation (9 available)
Kcnq1ot1tm1Tilg mutation (0 available); any Kcnq1ot1 mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice that maternally inherit the mutant Cdkn1c allele do survive to adulthood

cellular
• 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




Genotype
MGI:3713335
cx7
Allelic
Composition
Cdkn1atm1Led/Cdkn1atm1Led
Cdkn1ctm1Sje/Cdkn1c+
Genetic
Background
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn1atm1Led mutation (1 available); any Cdkn1a mutation (51 available)
Cdkn1ctm1Sje mutation (1 available); any Cdkn1c mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• normal numbers at E16.5
• 65% die before birth
• no live births when Cdkn1ctm1Sje is maternally inherited

growth/size/body

digestive/alimentary system

muscle
• fewer and shorter myotubes in the hind limb
• nuclei in myotubes larger and abnormal in shape
• increased apoptosis
• severely reduced in size
• thinner
• reduced intercostals muscles
• reduced head muscles
• body wall musculature severely reduced

respiratory system
• distal air sacs fail to differentiate
• primitive alveoli do not develop
• luminal space is reduced
• luminal space is reduced

craniofacial

renal/urinary system

skeleton
• ribs join the sternum at a wider than normal angle (90o)
• 9th rib usually
• sometimes also the 7th rib

vision/eye

limbs/digits/tail





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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/05/2019
MGI 6.14
The Jackson Laboratory