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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Cited2tm1Bha
targeted mutation 1, Shoumo Bhattacharya
MGI:2179740
Summary 15 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Cited2tm1Bha/Cited2tm1Bha B6.129P2-Cited2tm1Bha MGI:3054742
hm2
 		Cited2tm1Bha/Cited2tm1Bha involves: 129 * C57BL/6J MGI:3054743
hm3
 		Cited2tm1Bha/Cited2tm1Bha involves: 129P2/OlaHsd MGI:3771393
hm4
 		Cited2tm1Bha/Cited2tm1Bha involves: 129P2/OlaHsd * C57BL/6J MGI:2179746
ht5
 		Cited2tm1Bha/Cited2+ involves: 129P2/OlaHsd MGI:3804089
ht6
 		Cited2tm1Bha/Cited2tm3.1Bha involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6J MGI:5472108
ht7
 		Cited2tm1Bha/Cited2tm6Bha involves: 129P2/OlaHsd * C57BL/6J * C57BL/6N MGI:5472117
ht8
 		Cited2tm1Bha/Cited2tm4Bha involves: 129P2/OlaHsd * C57BL/6J * C57BL/6N MGI:5472111
ht9
 		Cited2tm1Bha/Cited2tm5Bha involves: 129P2/OlaHsd * C57BL/6J * C57BL/6N MGI:5472115
cn10
 		Cited2tm1Bha/Cited2tm2Bha
Tg(T-cre)1Lwd/0 		involves: 129 * C3H * C57BL/6 * SJL MGI:3804088
cn11
 		Cited2tm1Bha/Cited2tm2Bha
Edil3Tg(Sox2-cre)1Amc/Edil3+ 		involves: 129 * C57BL/6 * CBA * SJL MGI:3804085
cn12
 		Cited2tm1Bha/Cited2tm2Bha
H2az2Tg(Wnt1-cre)11Rth/H2az2+ 		involves: 129 * C57BL/6 * CBA * SJL MGI:3804086
cn13
 		Cited2tm1Bha/Cited2tm2Bha
Mesp1tm2(cre)Ysa/Mesp1+ 		involves: 129 * C57BL/6 * CBA * SJL MGI:3804087
cx14
 		Cited1tm1Fmar/Cited1tm1Fmar
Cited2tm1Bha/Cited2+ 		involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 MGI:3718982
cx15
 		Cited1tm1Fmar/Cited1tm1Fmar
Cited2tm1Bha/Cited2tm1Bha 		involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 MGI:3718981


Genotype
MGI:3054742
hm1
Allelic
Composition		 Cited2tm1Bha/Cited2tm1Bha
Genetic
Background		 B6.129P2-Cited2tm1Bha
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cited2tm1Bha mutation (3 available); any Cited2 mutation (23 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
interrupted aortic arch ( J:92872 )
• interruption of the 4th aortic arch is seen in 2 out of 11 mutants
right aortic arch ( J:92872 )
• right-sided aortic arch is seen in 4 out of 11 mutants
abnormal inferior vena cava morphology ( J:92872 )
• bilateral inferior vena cava is seen in 7 out of 11 mutants
persistent truncus arteriosus ( J:92872 )
• a common arterial trunk is seen in 2 out of 11 mutants
abnormal direction of heart looping ( J:92872 )
• ventral (1/11) and sinistral (5/11) cardiac looping are seen
double outlet right ventricle ( J:92872 )
• double outlet right ventricle is seen in 10 out of 11 mutants
common atrioventricular valve ( J:92872 )
• a common atrioventricular valve is seen in 5 out of 11 mutants
right atrial isomerism ( J:92872 )
• right atrial isomerism is seen in 7 out of 11 mutants
dextrocardia ( J:92872 )
• the heart is found on the right side or at the midline in 7 out of 11 mutants
mesocardia ( J:92872 )
• the heart is found on the right side or at the midline in 7 out of 11 mutants
ventricular septal defect ( J:92872 )
• ventricular septal defects are seen in 10 out of 11 mutants

embryo

growth/size/body
right atrial isomerism ( J:92872 )
• right atrial isomerism is seen in 7 out of 11 mutants
right pulmonary isomerism ( J:92872 )
• right pulmonary isomerism is seen in 7 out of 11 mutants
situs inversus ( J:92872 )
• abdominal visceral situs inversus is seen in 1 out of 11 mutants

hematopoietic system
small spleen ( J:92872 )
• a small or rudimentary spleen is seen in 7 out of 11 mutants

immune system
small spleen ( J:92872 )
• a small or rudimentary spleen is seen in 7 out of 11 mutants

limbs/digits/tail
abnormal tail position or orientation ( J:92872 )
• the tail is on the left in 7 out of 14 mutants compared to 0 out of 23 wild-type mice

respiratory system
right pulmonary isomerism ( J:92872 )
• right pulmonary isomerism is seen in 7 out of 11 mutants




Genotype
MGI:3054743
hm2
Allelic
Composition		 Cited2tm1Bha/Cited2tm1Bha
Genetic
Background		 involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cited2tm1Bha mutation (3 available); any Cited2 mutation (23 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
double outlet right ventricle ( J:92872 )
• cardiac abnormalities but not laterality defects are seen in F1 offspring of a cross between heterozygous congenic 129/Sv and C57BL/6J
ventricular septal defect ( J:92872 )
• cardiac abnormalities but not laterality defects are seen in F1 offspring of a cross between heterozygous congenic 129/Sv and C57BL/6J




Genotype
MGI:3771393
hm3
Allelic
Composition		 Cited2tm1Bha/Cited2tm1Bha
Genetic
Background		 involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cited2tm1Bha mutation (3 available); any Cited2 mutation (23 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Magnetic resonance image (MRI) identification of septal, outflow tract and aortic arch malformations in Cited2tm1Bha/Cited2tm1Bha embryos

cardiovascular system
abnormal aortic arch morphology ( J:102098 )
• aortic arch defects
ostium primum atrial septal defect ( J:102098 )
• atrial septum defect
abnormal heart ventricle morphology ( J:192202 )
• abnormal ventricular topology
ventricular septal defect ( J:102098 , J:192202 )
• ventricular septal defect in the interventricular septum (J:102098)

endocrine/exocrine glands
absent adrenal gland ( J:102098 , J:192202 )
• bilateral adrenal agenesis (J:102098)

growth/size/body
right atrial isomerism ( J:192202 )




Genotype
MGI:2179746
hm4
Allelic
Composition		 Cited2tm1Bha/Cited2tm1Bha
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cited2tm1Bha mutation (3 available); any Cited2 mutation (23 available)
♀ 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

cardiovascular system
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
persistent truncus arteriosus ( J:76593 , J:92872 )
• a common arterial trunk is seen in 1 out of 15 mutants (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)
common atrioventricular valve ( J:92872 )
• a common atrioventricular valve is seen in 3 out of 15 mutants
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
ventricular septal defect ( J:76593 , J:92872 )
• ventricular septal defects are seen in 10 out of 15 mutants (J:92872)

endocrine/exocrine glands

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
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




Genotype
MGI:3804089
ht5
Allelic
Composition		 Cited2tm1Bha/Cited2+
Genetic
Background		 involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cited2tm1Bha mutation (3 available); any Cited2 mutation (23 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality ( J:137951 )
• despite Mendelian ratios at E13.5 and E15.5, 8.5% fewer than expected pups are present

cardiovascular system
double outlet right ventricle ( J:137951 )
• in 1 of 45 mice and associated with hypoplastic pulmonary trunk
abnormal interventricular septum morphology ( J:137951 )
• in 3 of 45 mice at E15.5

homeostasis/metabolism
edema ( J:137951 )
• in some mice with cardiac defects




Genotype
MGI:5472108
ht6
Allelic
Composition		 Cited2tm1Bha/Cited2tm3.1Bha
Genetic
Background		 involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cited2tm1Bha mutation (3 available); any Cited2 mutation (23 available)
Cited2tm3.1Bha mutation (0 available); any Cited2 mutation (23 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:192202 )
• mice are viable and fertile




Genotype
MGI:5472117
ht7
Allelic
Composition		 Cited2tm1Bha/Cited2tm6Bha
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6J * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cited2tm1Bha mutation (3 available); any Cited2 mutation (23 available)
Cited2tm6Bha mutation (0 available); any Cited2 mutation (23 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:192202 )
• mice are viable and fertile




Genotype
MGI:5472111
ht8
Allelic
Composition		 Cited2tm1Bha/Cited2tm4Bha
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6J * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cited2tm1Bha mutation (3 available); any Cited2 mutation (23 available)
Cited2tm4Bha mutation (0 available); any Cited2 mutation (23 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype




Genotype
MGI:5472115
ht9
Allelic
Composition		 Cited2tm1Bha/Cited2tm5Bha
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6J * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cited2tm1Bha mutation (3 available); any Cited2 mutation (23 available)
Cited2tm5Bha mutation (0 available); any Cited2 mutation (23 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:192202 )
• mice are viable and fertile with the exception of one mouse (with ectopia cordis, small ventricular septal defect, edema and other structural anomalies)




Genotype
MGI:3804088
cn10
Allelic
Composition		 Cited2tm1Bha/Cited2tm2Bha
Tg(T-cre)1Lwd/0
Genetic
Background		 involves: 129 * C3H * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cited2tm1Bha mutation (3 available); any Cited2 mutation (23 available)
Cited2tm2Bha mutation (2 available); any Cited2 mutation (23 available)
Tg(T-cre)1Lwd mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
abnormal heart morphology ( J:137951 )
• 3 of 14 mice exhibit defective cardiac septation and 1 of 14 mice exhibit abnormal left-right patterning
double outlet right ventricle ( J:137951 )
• both the aorta and the pulmonary trunk arise from the right ventricle
right atrial isomerism ( J:137951 )
• indicated by bilateral systemic venous sinuses and a common atrium created by complete absence of the primary atrial septum
common atrium ( J:137951 )
• common atrium created by complete absence of the primary atrial septum
dextrocardia ( J:137951 )
• in few mice
abnormal heart left ventricle morphology ( J:137951 )
• dextral left ventricle

respiratory system

endocrine/exocrine glands
absent adrenal gland ( J:137951 )
• in 10 of 14 mice

growth/size/body
right atrial isomerism ( J:137951 )
• indicated by bilateral systemic venous sinuses and a common atrium created by complete absence of the primary atrial septum
right pulmonary isomerism ( J:137951 )
• in few mice




Genotype
MGI:3804085
cn11
Allelic
Composition		 Cited2tm1Bha/Cited2tm2Bha
Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic
Background		 involves: 129 * C57BL/6 * CBA * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cited2tm1Bha mutation (3 available); any Cited2 mutation (23 available)
Cited2tm2Bha mutation (2 available); any Cited2 mutation (23 available)
Edil3Tg(Sox2-cre)1Amc mutation (5 available); any Edil3 mutation (42 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
lethality throughout fetal growth and development, incomplete penetrance ( J:137951 )
• though present in Mendelian ratios at E15.5, mice die during late gestation or postnatal development with no mice present at weaning
postnatal lethality, complete penetrance ( J:137951 )
• though present in Mendelian ratios at E15.5, mice die during late gestation or postnatal development with no mice present at weaning

cardiovascular system
right aortic arch ( J:137951 )
• in some mice
abnormal inferior vena cava morphology ( J:137951 )
• bilateral in one mouse
common atrioventricular valve ( J:137951 )
• some mice exhibit a common atrioventricular valve
right atrial isomerism ( J:137951 )
• in some mice
dextrocardia ( J:137951 )
• in one mouse
ventricular septal defect ( J:137951 )
• in all embryos at E15.5
abnormal heart left ventricle morphology ( J:137951 )
• abnormal ventricular topology

respiratory system
right pulmonary isomerism ( J:137951 )
• in 6 of 10 embryos and associated with right atrial isomerism at E15.5

nervous system
exencephaly ( J:137951 )
• 2 mice at E15.5

endocrine/exocrine glands

growth/size/body
right atrial isomerism ( J:137951 )
• in some mice
right pulmonary isomerism ( J:137951 )
• in 6 of 10 embryos and associated with right atrial isomerism at E15.5




Genotype
MGI:3804086
cn12
Allelic
Composition		 Cited2tm1Bha/Cited2tm2Bha
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background		 involves: 129 * C57BL/6 * CBA * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cited2tm1Bha mutation (3 available); any Cited2 mutation (23 available)
Cited2tm2Bha mutation (2 available); any Cited2 mutation (23 available)
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (26 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
decreased survivor rate ( J:137951 )
• despite present in Mendelian ratios at E18.5, fewer than expected survive to weaning
postnatal lethality, incomplete penetrance ( J:137951 )
• despite present in Mendelian ratios at E18.5, fewer than expected survive to weaning

nervous system
exencephaly ( J:137951 )
• in one mouse
abnormal glossopharyngeal ganglion morphology ( J:137951 )
• 11 of 14 mice exhibit fusion of ganglia IX and X
abnormal vagus ganglion morphology ( J:137951 )
• 11 of 14 mice exhibit fusion of ganglia IX and X




Genotype
MGI:3804087
cn13
Allelic
Composition		 Cited2tm1Bha/Cited2tm2Bha
Mesp1tm2(cre)Ysa/Mesp1+
Genetic
Background		 involves: 129 * C57BL/6 * CBA * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cited2tm1Bha mutation (3 available); any Cited2 mutation (23 available)
Cited2tm2Bha mutation (2 available); any Cited2 mutation (23 available)
Mesp1tm2(cre)Ysa mutation (3 available); any Mesp1 mutation (18 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
ventricular septal defect ( J:137951 )
• while the outflow tract and aortic arch are normal, 3 of 18 mice exhibit septal defects




Genotype
MGI:3718982
cx14
Allelic
Composition		 Cited1tm1Fmar/Cited1tm1Fmar
Cited2tm1Bha/Cited2+
Genetic
Background		 involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cited1tm1Fmar mutation (1 available); any Cited1 mutation (5 available)
Cited2tm1Bha mutation (3 available); any Cited2 mutation (23 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
renal/urinary system
renal/urinary system phenotype ( J:123322 )
N
• despite expression in the kidney during development,, adult mice have normal kidney morphology




Genotype
MGI:3718981
cx15
Allelic
Composition		 Cited1tm1Fmar/Cited1tm1Fmar
Cited2tm1Bha/Cited2tm1Bha
Genetic
Background		 involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cited1tm1Fmar mutation (1 available); any Cited1 mutation (5 available)
Cited2tm1Bha mutation (3 available); any Cited2 mutation (23 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
embryonic lethality, complete penetrance ( J:123322 )
• very few double homozygotes survive to E12

renal/urinary system
renal/urinary system phenotype ( J:123322 )
N
• E12 metanephric rudiments cultured for 5 days show fewer branch tips and new epithelial structures; however, too few embryos were recovered to demonstrate statistical significance of this difference




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06/12/2024
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