Phenotypes Associated with This Genotype

Genotype
MGI:2179746

• Allelic Composition: Cited2^tm1Bha/Cited2^tm1Bha
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

mortality/aging

perinatal lethality, complete penetrance ( J:76593 )

• homozygous mutant embryos were detected 18.5 dpc, suggesting that the remainder of embyros die perinatally

embryonic lethality during organogenesis, incomplete penetrance ( J:76593 , J:123322 )

• a marked decrease of homozygous embryos were noted as early as 10.5 dpc (J:76593)

• embryos die around E13.5 (J:123322)

embryo

abnormal cardiac neural crest cell morphology ( J:76593 )

• cardiac neural crest cells were either abnormally distributed, reduced in number, or absent

decreased cardiac neural crest cell number ( J:76593 )

absent cardiac neural crest cells ( J:76593 )

abnormal embryo turning ( J:92872 )

cardiovascular system

abnormal aortic arch morphology ( J:76593 , J:92872 )

aberrant origin of the right subclavian artery ( J:76593 )

interrupted aortic arch ( J:92872 )

• interruption of the 4th aortic arch is seen in 2 out of 15 mutants

right aortic arch ( J:92872 )

• right-sided aortic arch is seen in 4 out of 15 mutants

abnormal inferior vena cava morphology ( J:92872 )

• bilateral (2/15) and midline (1/15) inferior vena cava were seen

abnormal cardiac neural crest cell morphology ( J:76593 )

• cardiac neural crest cells were either abnormally distributed, reduced in number, or absent

decreased cardiac neural crest cell number ( J:76593 )

absent cardiac neural crest cells ( J:76593 )

persistent truncus arteriosus ( J:76593 , J:92872 )

• a common arterial trunk is seen in 1 out of 15 mutants (J:92872)

abnormal heart development ( J:92872 )

abnormal direction of heart looping ( J:92872 )

• ventral (1/15) and sinistral (2/15) cardiac looping are seen

double outlet right ventricle ( J:76593 , J:92872 )

• double outlet right ventricle is seen in 7 out of 15 mutants (J:92872)

overriding aortic valve ( J:76593 )

common atrioventricular valve ( J:92872 )

• a common atrioventricular valve is seen in 3 out of 15 mutants

abnormal heart atrium morphology ( J:92872 )

atrial septal defect ( J:76593 )

ostium primum atrial septal defect ( J:92872 )

• ostium primum atrial septal defect in the absence of right atrial isomerism is seen in 3 out of 15 mutants

abnormal heart position or orientation ( J:92872 )

• the heart is found on the right side or at the midline in 2 out of 15 mutants

right atrial isomerism ( J:92872 )

• right atrial isomerism is seen in 3 out of 15 mutants

abnormal heart ventricle morphology ( J:92872 )

ventricular septal defect ( J:76593 , J:92872 )

• ventricular septal defects are seen in 10 out of 15 mutants (J:92872)

endocrine/exocrine glands

absent adrenal gland ( J:76593 )

hematopoietic system

small spleen ( J:92872 )

• a small or rudimentary spleen is seen in 4 out of 15 mutants

limbs/digits/tail

abnormal tail position or orientation ( J:92872 )

• the tail is on the left in 33 out of 72 mutants compared to 7 out of 73 wild-type mice

respiratory system

right pulmonary isomerism ( J:92872 )

• right pulmonary isomerism is seen in 3 out of 15 mutants

nervous system

abnormal cardiac neural crest cell morphology ( J:76593 )

• cardiac neural crest cells were either abnormally distributed, reduced in number, or absent

decreased cardiac neural crest cell number ( J:76593 )

absent cardiac neural crest cells ( J:76593 )

exencephaly ( J:76593 )

• fifty seven percent of homozygous embryos examined after 10.5 dpc had exencephaly of anterior open neural tube defects

abnormal cranial ganglia morphology ( J:76593 )

• the cranial ganglia were smaller or almost absent in homozygous mice, and the ninth and tenth ganglia were fused

fused dorsal root ganglion ( J:76593 )

• dorsal root ganglia were either normal or reduced in size and fused cranially

small dorsal root ganglion ( J:76593 )

• dorsal root ganglia were either normal or reduced in size

renal/urinary system

abnormal kidney development ( J:123322 )

• E12 metanephric rudiments cultured for 5 days show a 18% reduction in nephronic epithelia

• however, cultured rudiments do not display any gross morphological abnormalities

growth/size/body

right atrial isomerism ( J:92872 )

• right atrial isomerism is seen in 3 out of 15 mutants

right pulmonary isomerism ( J:92872 )

• right pulmonary isomerism is seen in 3 out of 15 mutants

immune system

small spleen ( J:92872 )

• a small or rudimentary spleen is seen in 4 out of 15 mutants