Phenotypes associated with this allele

• Allele Symbol: Cited2^tm1Ycy
• Allele Name: targeted mutation 1, Yu-Chung Yang
• Allele ID: MGI:2385355
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cited2^tm1Ycy/Cited2^tm1Ycy	B6.Cg-Cited2^tm1Ycy	MGI:4887356
hm2	Cited2^tm1Ycy/Cited2^tm1Ycy	involves: C57BL/6J	MGI:2667200
ht3	Cited2^tm1Ycy/Cited2^+	involves: C57BL/6J	MGI:2667201

Genotype
MGI:4887356

hm1

• Allelic Composition: Cited2^tm1Ycy/Cited2^tm1Ycy
• Genetic Background: B6.Cg-Cited2^tm1Ycy

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

respiratory system

right pulmonary isomerism ( J:136063 )

• at E15.5-E18.5, 64% of mutant embryos show right pulmonary isomerism, i.e. 4 lung lobes on the right and 4 lobes on the left rather than the normal arrangement of 1 lobe on the left and 4 lobes on the right

abnormal lung development ( J:136063 )

• at E17.5-E18.5, all mutant embryos exhibit immature distal lungs

• at E18.5, expression of alveolar and Clara epithelial marker genes is reduced

• however, no obvious histological abnormalities in conducting airways are observed

impaired lung alveolus development ( J:136063 )

• mutant fetal lungs exhibit defects in terminal sac formation due to altered differentiation of alveolar epithelial cells and a reduced frequency of apoptotic alveolar cells

small lung lobe ( J:136063 )

• at E15.5-E18.5, mutant lung lobes are significantly reduced in size relative to wild-type lobes

abnormal pulmonary alveolus morphology ( J:136063 )

• at E17.5-E18.5, all mutant distal lungs display reduced terminal sac space with complete destruction of alveolar structure

abnormal pulmonary alveolus epithelial cell morphology ( J:136063 )

• at E17.5-E18.5, terminal sacs are surrounded by cuboidal type II cells and lack squamous type I cells, consistent with pulmonary immaturity

abnormal type I pneumocyte morphology ( J:136063 )

• at E18.5, squamous type I cells are absent

abnormal type II pneumocyte morphology ( J:136063 )

• at E18.5, cytoplasmic glycogen is dispersed, apical microvilli are smaller, and lamellar bodies are markedly reduced or undetected in type II epithelial cells

absent alveolar lamellar bodies ( J:136063 )

• lamellar bodies are markedly reduced or undetected in type II epithelial cells

abnormal surfactant secretion ( J:136063 )

• at E18.5, secreted surfactant proteins are markedly reduced in the lumen of peripheral airspace

growth/size/body

right pulmonary isomerism ( J:136063 )

• at E15.5-E18.5, 64% of mutant embryos show right pulmonary isomerism, i.e. 4 lung lobes on the right and 4 lobes on the left rather than the normal arrangement of 1 lobe on the left and 4 lobes on the right

Genotype
MGI:2667200

hm2

• Allelic Composition: Cited2^tm1Ycy/Cited2^tm1Ycy
• Genetic Background: involves: C57BL/6J

Histological analysis of Cited2^tm1Ycy/Cited2^tm1Ycy embryonic heart

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:78364 )

• 95% died between E13 and E17.5; none survived beyond E18.5

cardiovascular system

pulmonary artery stenosis ( J:78364 )

• narrowing of pulmonary artery

abnormal heart and great artery attachment ( J:78364 )

• misalignment of aorta and pulmonary artery with respect to each other and ventricular chambers

persistent truncus arteriosus ( J:78364 )

• observed in several embryos

double outlet right ventricle ( J:78364 )

• exhibited by some embryos at E13.5 and E16.5

ventricular septal defect ( J:78364 )

• apparent E13.5-E16.5

• leakage between ventricles

abnormal blood flow velocity ( J:78364 )

• high peak outflow velocities

atrioventricular valve regurgitation ( J:78364 )

• leakage from ventricles into atria in some embryos

embryo

decreased embryo size ( J:78364 )

• smaller than wild-type at E12.5

growth/size/body

decreased embryo size ( J:78364 )

• smaller than wild-type at E12.5

vision/eye

iris coloboma ( J:78364 )

• iris coloboma exhibited by E12.5

nervous system

exencephaly ( J:78364 )

• 69% of embryos displayed open cranial neural tubes at E13.5

abnormal spinal cord central canal morphology ( J:78364 )

• premature closure of the central canal in 11 of 13 embryos

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tetralogy of Fallot		DOID:6419	OMIM:187500	J:78364

Genotype
MGI:2667201

ht3

• Allelic Composition: Cited2^tm1Ycy/Cited2⁺
• Genetic Background: involves: C57BL/6J

mortality/aging

prenatal lethality, incomplete penetrance ( J:78364 )

• an unspecified proportion died in utero

embryo

decreased embryo size ( J:78364 )

• 10% were smaller than wild-type at E12.5

growth/size/body

decreased embryo size ( J:78364 )

• 10% were smaller than wild-type at E12.5

nervous system

exencephaly ( J:78364 )

• 5% of embryos displayed open cranial neural tubes at E13.5