Phenotypes associated with this allele

• Allele Symbol: Cdkn1c⁺
• Allele Name: wild type
• Allele ID: MGI:2158292
• Summary: 16 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Cdkn1c^tm1.1(Cdkn1b*)Kei/Cdkn1c^+	B6.129P2-Cdkn1c^tm1.1(Cdkn1b*)Kei	MGI:5294435
ht2	Cdkn1c^tm2.1Kei/Cdkn1c^+	B6.129P2-Cdkn1c^tm2.1Kei	MGI:5294431
ht3	Cdkn1c^tm1.1(KOMP)Vlcg/Cdkn1c^+	C57BL/6N-Cdkn1c^tm1.1(KOMP)Vlcg/MbpMmucd	MGI:6325123
ht4	Cdkn1c^tm1Sje/Cdkn1c^+	involves: 129 * C57BL/6	MGI:3773050
ht5	Cdkn1c^tm1Kat/Cdkn1c^+	involves: 129P2/OlaHsd	MGI:3838163
ht6	Cdkn1c^tm1Kat/Cdkn1c^+	involves: 129P2/OlaHsd * C57BL/6	MGI:3712981
ht7	Cdkn1c^tm1.1(Cdkn1b*)Kei/Cdkn1c^+	involves: 129P2/OlaHsd * C57BL/6J	MGI:3840688
ht8	Cdkn1c^tm1Kat/Cdkn1c^+	involves: 129P2/OlaHsd * C57BL/6J	MGI:3840689
ht9	Cdkn1c^tm1Bbd/Cdkn1c^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3712850
ht10	Cdkn1c^tm1Sje/Cdkn1c^+	involves: 129S2/SvHsd * 129S7/SvEvBrd	MGI:5825065
ht11	Cdkn1c^tm1Sje/Cdkn1c^+	involves: 129S7/SvEvBrd * C57BL/6	MGI:3713333
cn12	Cdkn1a^tm1Led/Cdkn1a^tm1Led Cdkn1c^tm2.1Kei/Cdkn1c^+ Tg(Mx1-cre)1Cgn/0	B6.Cg-Cdkn1c^tm2.1Kei Cdkn1a^tm1Led Tg(Mx1-cre)1Cgn	MGI:5294434
cn13	Cdkn1c^tm2.1Kei/Cdkn1c^+ Tg(EIIa-cre)C5379Lmgd/0	B6.Cg-Cdkn1c^tm2.1Kei Tg(EIIa-cre)C5379Lmgd	MGI:5294432
cn14	Cdkn1c^tm2.1Kei/Cdkn1c^+ Tg(Mx1-cre)1Cgn/0	B6.Cg-Cdkn1c^tm2.1Kei Tg(Mx1-cre)1Cgn	MGI:5294433
cx15	Cdkn1c^tm1Sje/Cdkn1c^+ Kcnq1ot1^tm1Tilg/Kcnq1ot1^+	involves: 129 * C57BL/6	MGI:3773051
cx16	Cdkn1a^tm1Led/Cdkn1a^tm1Led Cdkn1c^tm1Sje/Cdkn1c^+	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6	MGI:3713335

Genotype
MGI:5294435

ht1

• Allelic Composition: Cdkn1c^{tm1.1(Cdkn1b*)Kei}/Cdkn1c⁺
• Genetic Background: B6.129P2-Cdkn1c^{tm1.1(Cdkn1b*)Kei}

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

hematopoietic system

hematopoietic system phenotype ( J:176209 )

N • KSL hematopoietic stem cells are normal

Genotype
MGI:5294431

ht2

• Allelic Composition: Cdkn1c^tm2.1Kei/Cdkn1c⁺
• Genetic Background: B6.129P2-Cdkn1c^tm2.1Kei

normal phenotype

no abnormal phenotype detected ( J:176209 )

• mice are indistinguishable from wild-type mice

Genotype
MGI:6325123

ht3

• Allelic Composition: Cdkn1c^{tm1.1(KOMP)Vlcg}/Cdkn1c⁺
• Genetic Background: C57BL/6N-Cdkn1c^{tm1.1(KOMP)Vlcg}/MbpMmucd
• Cell Lines: 12789B-A2

Data Sources

IMPC Data for Cdkn1c

homeostasis/metabolism

edema ( J:211773 )

IMPC - TCP

Genotype
MGI:3773050

ht4

• Allelic Composition: Cdkn1c^tm1Sje/Cdkn1c⁺
• Genetic Background: involves: 129 * C57BL/6

mortality/aging

postnatal lethality, complete penetrance ( J:108700 )

• mice that maternally inherit the mutant allele do not survive to adulthood

Genotype
MGI:3838163

ht5

• Allelic Composition: Cdkn1c^tm1Kat/Cdkn1c⁺
• Genetic Background: involves: 129P2/OlaHsd

renal/urinary system

increased urine protein level ( J:102331 )

• when this allele is maternally inherited, protein secretion is 2.8 times greater by day 17.5 of pregnancy than in pregnant wild-type mice

• however, protein secretion is normal after delivery or when this allele is inherited parentally

abnormal renal glomerulus morphology ( J:102331 )

• when this allele is maternally inherited, glomeruli are enlarged and irregularly shaped with increased subendothelial and mesangial depositions in glomeruli capillaries by day 17.5 of pregnancy unlike in pregnant wild-type mice

cortical renal glomerulopathies ( J:102331 )

• when this allele is maternally inherited, some pregnant mice exhibit nephrosclerosis unlike pregnant wild-type mice

abnormal renal tubule morphology ( J:102331 )

• when this allele is maternally inherited, fibroid and hyaline deposits are observed in the proximal and distal tubules of pregnant mice unlike in pregnant wild-type mice

embryo

abnormal trophoblast giant cell morphology ( J:102331 )

• when this allele is maternally inherited, fewer giant cells invade to maternal vessels at the maternal-fetal interface compared to in wild-type mice

abnormal placenta labyrinth morphology ( J:102331 )

• when this allele is maternally inherited, the labyrinthine space is narrow unlike in wild-type mice due to increased proliferation of spongio- and labyrinthine trophoblasts

increased placenta weight ( J:102331 )

• when this allele is maternally inherited

cardiovascular system

increased systemic arterial systolic blood pressure ( J:102331 )

• when this allele is maternally inherited, systolic blood pressure increases at E9.5 through delivery before retuning to normal unlike pregnant wild-type mice that maintain normal blood pressure throughout pregnancy

• however, blood pressure is normal after delivery or when this allele is inherited parentally

hematopoietic system

thrombocytopenia ( J:102331 )

• when this allele is maternally inherited, platelet counts are decreased to 55% of counts in pregnant wild-type by day 17 of pregnancy

• however, platelet counts are normal when this allele is inherited parentally

homeostasis/metabolism

increased urine protein level ( J:102331 )

• when this allele is maternally inherited, protein secretion is 2.8 times greater by day 17.5 of pregnancy than in pregnant wild-type mice

• however, protein secretion is normal after delivery or when this allele is inherited parentally

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pre-eclampsia		DOID:10591	OMIM:189800 OMIM:609402 OMIM:609403 OMIM:609404 OMIM:614592	J:102331

Genotype
MGI:3712981

ht6

• Allelic Composition: Cdkn1c^tm1Kat/Cdkn1c⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:61190 )

• slight lethality before birth

neonatal lethality, incomplete penetrance ( J:61190 )

• about half of heterozygotes die within 24 hours of birth

behavior/neurological

dysphagia ( J:61190 )

• in about half of heterozygotes

• suggested by empty stomachs

respiratory system

respiratory distress ( J:61190 )

• in about half of heterozygotes

homeostasis/metabolism

cyanosis ( J:61190 )

• in about half of heterozygotes

increased urine protein level ( J:102331 )

• increases greatly in females during pregnancy

craniofacial

cleft secondary palate ( J:61190 )

• observed in those mice that die early

digestive/alimentary system

dysphagia ( J:61190 )

• in about half of heterozygotes

• suggested by empty stomachs

cleft secondary palate ( J:61190 )

• observed in those mice that die early

abnormal intestine morphology ( J:61190 )

• various intestinal abnormalities in those mice that die early

reproductive system

short gestation period ( J:61190 )

♀ • birth 2 days early, after 18 days

hematopoietic system

thrombocytopenia ( J:102331 )

• in females during pregnancy, by 48-55%

cardiovascular system

increased systemic arterial blood pressure ( J:102331 )

• blood pressure rises during pregnancy

renal/urinary system

increased urine protein level ( J:102331 )

• increases greatly in females during pregnancy

abnormal kidney morphology ( J:102331 )

• endotheliosis leading to nephrosclerosis in pregnant females

abnormal renal glomerulus morphology ( J:102331 )

• enlarged in pregnant females at E17.5

• also irregularly shaped

cellular

paternal imprinting ( J:61190 )

• paternal allele is transcriptionally repressed

• no abnormal phenotype in crosses between heterozygous males and wild-type females

growth/size/body

cleft secondary palate ( J:61190 )

• observed in those mice that die early

Genotype
MGI:3840688

ht7

• Allelic Composition: Cdkn1c^{tm1.1(Cdkn1b*)Kei}/Cdkn1c⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Representative testes, seminal vesicles, and uteri from wild-type, Cdkn1c^tm1Kat/Cdkn1c⁺, and Cdkn1c^{tm1.1(Cdkn1b*)Kei}/Cdkn1c⁺ mice at 7 weeks of age

mortality/aging

mortality/aging ( J:147145 )

N • unlike null mice, all knock in mice survive

cellular

paternal imprinting ( J:147145 )

• all mice carry a maternally inherited mutant allele

growth/size/body

growth/size/body region phenotype ( J:147145 )

N • unlike null mice, knock in mice grow at a rate similar to controls

abnormal abdominal wall morphology ( J:147145 )

• thinning of the abdominal wall or omphalocele are seen

omphalocele ( J:147145 )

• thinning of the abdominal wall or omphalocele are seen

renal/urinary system

abnormal kidney papilla morphology ( J:147145 )

• dysplasia

endocrine/exocrine glands

enlarged adrenal glands ( J:147145 )

• enlargement is less pronounced compared to null mice

reproductive system

uterus atrophy ( J:147145 )

♀ • present in 2 of 9 mice

♀ • incidence is decreased compared to null mice

uterus atresia ( J:147145 )

♀ • present in 3 of 15 mice

♀ • incidence is decreased compared to null mice

embryo

abnormal placenta morphology ( J:147145 )

• dysplasia

digestive/alimentary system

digestive/alimentary phenotype ( J:147145 )

N • cleft palate and shortening of the intestines seen in null mice are largely corrected in knock in mice

vision/eye

vision/eye phenotype ( J:147145 )

N • unlike null mice, knock in mice do not develop cataracts and do not display increased cell proliferation in the lens

skeleton

skeleton phenotype ( J:147145 )

N • rib and vertebral deformities, delayed bone ossification, decreased length of the long bones, and aberrant cell proliferation seen in null mice are largely corrected in knock in mice

Genotype
MGI:3840689

ht8

• Allelic Composition: Cdkn1c^tm1Kat/Cdkn1c⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Small size of Cdkn1c^tm1Kat/Cdkn1c⁺ mice at 7 weeks of age

mortality/aging

neonatal lethality, incomplete penetrance ( J:147145 )

• most mice die shortly after birth although some survive to weaning

cellular

paternal imprinting ( J:147145 )

• all mice carry a maternally inherited mutant allele

embryo

embryonic growth retardation ( J:147145 )

abnormal placenta morphology ( J:147145 )

• dysplasia

growth/size/body

cleft palate ( J:147145 )

embryonic growth retardation ( J:147145 )

abnormal abdominal wall morphology ( J:147145 )

• thinning of the abdominal wall or omphalocele are seen

omphalocele ( J:147145 )

• thinning of the abdominal wall or omphalocele are seen

postnatal growth retardation ( J:147145 )

• seen in mice that survive to weaning

renal/urinary system

abnormal kidney papilla morphology ( J:147145 )

• dysplasia

digestive/alimentary system

cleft palate ( J:147145 )

abnormal intestine morphology ( J:147145 )

• short intestines

endocrine/exocrine glands

enlarged adrenal glands ( J:147145 )

vision/eye

abnormal lens development ( J:147145 )

• increased cell proliferation is seen in the lens at E13.5

cataract ( J:147145 )

reproductive system

uterus atrophy ( J:147145 )

♀

uterus atresia ( J:147145 )

♀

skeleton

abnormal long bone epiphyseal plate morphology ( J:147145 )

• increased cell proliferation is seen in the zones of proliferation and flattened cells in the humerus at E16.5

decreased length of long bones ( J:147145 )

abnormal rib morphology ( J:147145 )

abnormal vertebrae morphology ( J:147145 )

delayed bone ossification ( J:147145 )

• of the occipital bone, digits, and long bones

craniofacial

cleft palate ( J:147145 )

Genotype
MGI:3712850

ht9

• Allelic Composition: Cdkn1c^tm1Bbd/Cdkn1c⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:40142 )

• slight lethality between E10.5 and E16.5

neonatal lethality, incomplete penetrance ( J:40142 )

• about half of heterozygotes die within a few hours of birth

• about 5% of mice survive to adulthood

behavior/neurological

absent gastric milk in neonates ( J:40142 )

• absence of milk spots in the stomach of mice that die early

abnormal suckling behavior ( J:40142 )

• difficulty suckling as determined by absence of milk in the stomach in those mice that die early

craniofacial

cleft palate ( J:40142 )

• observed in those mice that die early

digestive/alimentary system

cleft palate ( J:40142 )

• observed in those mice that die early

abnormal intestine morphology ( J:40142 )

• various intestinal abnormalities in those mice that die early

limbs/digits/tail

short limbs ( J:40142 )

• short limbs at birth in those mice that die early

cellular

paternal imprinting ( J:40142 )

• paternal allele is transcriptionally repressed

• no abnormal phenotype in crosses between heterozygous males and wild-type females

• abnormal phenotype seen in crosses between heterozygous females and normal males similar to that seen for homozygous mutants

growth/size/body

cleft palate ( J:40142 )

• observed in those mice that die early

Genotype
MGI:5825065

ht10

• Allelic Composition: Cdkn1c^tm1Sje/Cdkn1c⁺
• Genetic Background: involves: 129S2/SvHsd * 129S7/SvEvBrd

mortality/aging

neonatal lethality, complete penetrance ( J:232408 )

• embryos with the maternally inherited allele die neonatally

adipose tissue

abnormal brown adipose tissue morphology ( J:232408 )

• 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

decreased brown adipose tissue amount ( J:232408 )

• 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

abnormal interscapular fat pad morphology ( J:232408 )

• 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

ht11

• Allelic Composition: Cdkn1c^tm1Sje/Cdkn1c⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:104004 )

• present at expected numbers at E16.5

• 30% die in utero before birth when Cdkn1c^tm1Sje is maternally inherited

postnatal lethality, incomplete penetrance ( J:40203 )

• 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

enlarged adrenal glands ( J:40203 )

• significantly enlarged and displaying cytomegaly

cellular

paternal imprinting ( J:40203 )

• paternal allele is transcriptionally repressed

• no abnormal phenotype in crosses between heterozygous males and wild-type females

Genotype
MGI:5294434

cn12

• Allelic Composition: Cdkn1a^tm1Led/Cdkn1a^tm1Led; Cdkn1c^tm2.1Kei/Cdkn1c⁺; Tg(Mx1-cre)1Cgn/0
• Genetic Background: B6.Cg-Cdkn1c^tm2.1Kei Cdkn1a^tm1Led Tg(Mx1-cre)1Cgn

hematopoietic system

abnormal hematopoietic stem cell physiology ( J:176209 )

• when Cdkn1c^tm2.1Kei is inherited maternally, hematopoietic stem (KSL) cells from pIpC-treated mice exhibit reduced colony formation in vitro before and after coculture with OP9 cells compared with control cells

Genotype
MGI:5294432

cn13

• Allelic Composition: Cdkn1c^tm2.1Kei/Cdkn1c⁺; Tg(EIIa-cre)C5379Lmgd/0
• Genetic Background: B6.Cg-Cdkn1c^tm2.1Kei Tg(EIIa-cre)C5379Lmgd

renal/urinary system

kidney papillary atrophy ( J:176209 )

• when Cdkn1c^tm2.1Kei is inherited maternally, mice exhibit atrophy of the renal papilla compared with control mice

Genotype
MGI:5294433

cn14

• Allelic Composition: Cdkn1c^tm2.1Kei/Cdkn1c⁺; Tg(Mx1-cre)1Cgn/0
• Genetic Background: B6.Cg-Cdkn1c^tm2.1Kei Tg(Mx1-cre)1Cgn

hematopoietic system

decreased hematopoietic stem cell number ( J:176209 )

• when Cdkn1c^tm2.1Kei is inherited maternally, mice exhibit decreased KSL fractions as early as 4 weeks after pIpC-treatment compared with control mice

abnormal hematopoietic stem cell physiology ( J:176209 )

• when Cdkn1c^tm2.1Kei is inherited maternally, hematopoietic stem cells from pIpC-treated mice exhibit decreased self-renewal capacity, decreased maintenance of quiescence, and increased frequency of apoptosis compared with control mice

Genotype
MGI:3773051

cx15

• Allelic Composition: Cdkn1c^tm1Sje/Cdkn1c⁺; Kcnq1ot1^tm1Tilg/Kcnq1ot1⁺
• Genetic Background: involves: 129 * C57BL/6

mortality/aging

mortality/aging ( J:108700 )

N • mice that maternally inherit the mutant Cdkn1c allele do survive to adulthood

cellular

abnormal imprinting ( J:108700 )

• 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

cx16

• Allelic Composition: Cdkn1a^tm1Led/Cdkn1a^tm1Led; Cdkn1c^tm1Sje/Cdkn1c⁺
• Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

mortality/aging

perinatal lethality, complete penetrance ( J:52552 )

• no live births when Cdkn1c^tm1Sje is maternally inherited

lethality throughout fetal growth and development, incomplete penetrance ( J:52552 )

• normal numbers at E16.5

• 65% die before birth

postnatal lethality ( J:52552 )

growth/size/body

cleft palate ( J:52552 )

herniated abdominal wall ( J:52552 )

omphalocele ( J:52552 )

decreased fetal size ( J:52552 )

digestive/alimentary system

cleft palate ( J:52552 )

abnormal ileum morphology ( J:52552 )

abnormal jejunum morphology ( J:52552 )

muscle

increased skeletal muscle fiber size ( J:52552 )

• fewer and shorter myotubes in the hind limb

• nuclei in myotubes larger and abnormal in shape

• increased apoptosis

thin diaphragm muscle ( J:52552 )

• severely reduced in size

• thinner

decreased skeletal muscle mass ( J:52552 )

• reduced intercostals muscles

• reduced head muscles

• body wall musculature severely reduced

respiratory system

abnormal pulmonary alveolus morphology ( J:52552 )

• distal air sacs fail to differentiate

• primitive alveoli do not develop

abnormal bronchiole morphology ( J:52552 )

• luminal space is reduced

abnormal bronchus morphology ( J:52552 )

• luminal space is reduced

respiratory distress ( J:52552 )

craniofacial

cleft palate ( J:52552 )

renal/urinary system

abnormal kidney medulla development ( J:52552 )

small inner medullary pyramid ( J:52552 )

skeleton

abnormal limb bone morphology ( J:52552 )

abnormal long bone epiphysis morphology ( J:52552 )

abnormal axial skeleton morphology ( J:52552 )

abnormal sternum morphology ( J:52552 )

abnormal sternocostal joint morphology ( J:52552 )

• ribs join the sternum at a wider than normal angle (90^o)

short sternum ( J:52552 )

split sternum ( J:52552 )

abnormal rib morphology ( J:52552 )

rib bifurcation ( J:52552 )

• 9th rib usually

• sometimes also the 7th rib

abnormal spine curvature ( J:52552 )

vision/eye

abnormal lens development ( J:52552 )

abnormal lens epithelium morphology ( J:52552 )

limbs/digits/tail

abnormal limb bone morphology ( J:52552 )