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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Nkx2-5tm1Siz
targeted mutation 1, Seigo Izumo
MGI:1857618
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Nkx2-5tm1Siz/Nkx2-5tm1Siz involves: 129S4/SvJaeSor * C57BL/6J MGI:2175147
ht2
Nkx2-5tm1Siz/Nkx2-5+ involves: 129S4/SvJaeSor MGI:3623792
cx3
Nkx2-5tm1Siz/Nkx2-5tm1Siz
Nkx2-6tm1Siz/Nkx2-6tm1Siz
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J MGI:3608504
cx4
Nkx2-5tm1Siz/Nkx2-5+
Nkx2-6tm1Siz/Nkx2-6tm1Siz
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J MGI:3608505
cx5
Nkx2-5tm1Siz/Nkx2-5tm1Siz
Nkx2-6tm1Siz/Nkx2-6+
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J MGI:3608524
cx6
Cdc42tm1.1Yizh/Cdc42+
Nkx2-5tm1Siz/Nkx2-5+
involves: 129S4/SvJaeSor MGI:5141005


Genotype
MGI:2175147
hm1
Allelic
Composition
Nkx2-5tm1Siz/Nkx2-5tm1Siz
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5tm1Siz mutation (0 available); any Nkx2-5 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes die between E9.5 and E11.5

cardiovascular system
• at E9.5, homozygotes display a poorly developed dorsal aorta
• at E9.5, homozygotes exhibit poorly developed intersomitic arteries
• at E9.5, homozygotes exhibit poorly developed pharyngeal arch arteries
• at E9.5, mutant yolk sacs contain only large vascular channels with few blood cells
• at E9.5, mutant yolk sacs lack large vitelline blood vessels
• at E9.5, homozygotes show failure of myocardial trabeculation
• at E9.5, homozygotes exhibit a poorly developed, stenotic outflow tract
• homozygotes display abnormal cardiac development after correct rightward looping of the heart tube
• at E9.5, the mutant AV canal remains wide open as opposed to displaying a narrow luminal diameter; the bulboventricular sulcus fails to form
• at E9.5, homozygotes display lack of endocardial cushion formation
• at E9.5, homozygotes exhibit a single ventricle that is abruptly connected to an abnormal outflow tract
• at E10.5, homozygotes display massive pericardial effusion

embryo
• at E10.5, homozygotes exhibit severe growth retardation
• at E9.5, homozygotes exhibit poorly developed pharyngeal arch arteries
• at E9.5, mutant yolk sacs contain only large vascular channels with few blood cells
• at E9.5, mutant yolk sacs lack large vitelline blood vessels
• at E9.5, mutant yolk sacs show abnormal separation of the endodermal and mesodermal layers
• at E9.5, mutant yolk sacs exhibit excessive surface folding

hematopoietic system
• at E9.5, mutant embryos are severely anemic relative to wild-type embryos

growth/size/body
• at E10.5, homozygotes exhibit severe growth retardation

respiratory system
• at E9.5 and E10.5, homozygotes display a defect in pharynx formation, with fewer endodermal cells detected in the pharyngeal floor and pouches

cellular
• at E8.75, homozygotes exhibit reduced proliferation of pharyngeal endodermal cells relative to wild-type mice

muscle
• at E9.5, homozygotes show failure of myocardial trabeculation

craniofacial
• at E9.5, homozygotes exhibit poorly developed pharyngeal arch arteries

homeostasis/metabolism
• at E10.5, homozygotes display massive pericardial effusion




Genotype
MGI:3623792
ht2
Allelic
Composition
Nkx2-5tm1Siz/Nkx2-5+
Genetic
Background
involves: 129S4/SvJaeSor
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5tm1Siz mutation (0 available); any Nkx2-5 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• ventricles have approximately half as many Purkinje cells as wild-type
• at 8 and 12 weeks, mice exhibit decreased fractional shortening and ejection fraction compared with wild-type mice
• longer 1:1 and 2:1 cycle lengths and atrioventricular node effective refractory periods than wild-type as determined by rapid atrial pacing
• His signal amplitude on the IEGM is markedly diminished in heterozygotes as young as 3 weeks
• diminished AV node function
• heterozygotes as old as 2 years, do not progress beyond first-degree AV block
• prolonged PR interval at 7 weeks of age or older resulting from prolongation of the AH interval
• prolonged QRS interval at all ages (J:89216)

muscle
• ventricles have approximately half as many Purkinje cells as wild-type
• at 8 and 12 weeks, mice exhibit decreased fractional shortening and ejection fraction compared with wild-type mice




Genotype
MGI:3608504
cx3
Allelic
Composition
Nkx2-5tm1Siz/Nkx2-5tm1Siz
Nkx2-6tm1Siz/Nkx2-6tm1Siz
Genetic
Background
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5tm1Siz mutation (0 available); any Nkx2-5 mutation (15 available)
Nkx2-6tm1Siz mutation (0 available); any Nkx2-6 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system
• double homozygous mutant hearts lack endocardial cushion formation
• double homozygotes exhibit a less clear distinction between the atrium and ventricle; the expansion of the common atrium is significantly less extensive relative to Nkx2-5tm1Siz mutant embryos
• in addition, differentiation of atrial myocytes appears to be retarded
• at E10.5, double homozygotes display massive pericardial effusion, similar to Nkx2.5tm1Siz mutant embryos

growth/size/body
• at E10.5, double homozygotes exhibit severe growth retardation

respiratory system
• at E9.5 and E10.5, double homozygotes show disrupted pharynx formation in the pharyngeal part of the foregut, characterized by severe dilatation, reduced numbers of pharyngeal endodermal cells, and loss of a continuous endodermal cell layer
• only a small number of endodermal cells are detected, mainly on the ventral side

cellular
• at E8.75, double homozygotes exhibit enhanced apoptosis in pharyngeal endodermal cells, except for a small number of non-apoptotic cells on the ventral side
• at E8.75, double homozygotes exhibit reduced proliferation of pharyngeal endodermal cells

embryo
• at E10.5, double homozygotes exhibit severe growth retardation
• double homozygotes fail to form pharyngeal pouches, as shown by loss of Pax9 expression in the endoderm of pharyngeal pouches

homeostasis/metabolism
• at E10.5, double homozygotes display massive pericardial effusion, similar to Nkx2.5tm1Siz mutant embryos




Genotype
MGI:3608505
cx4
Allelic
Composition
Nkx2-5tm1Siz/Nkx2-5+
Nkx2-6tm1Siz/Nkx2-6tm1Siz
Genetic
Background
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5tm1Siz mutation (0 available); any Nkx2-5 mutation (15 available)
Nkx2-6tm1Siz mutation (0 available); any Nkx2-6 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• mice heterozygous for Nkx2-5tm1Siz and homozygous for Nkx2-6tm1Siz are viable and fertile and display no detectable abnormalities either in pharynx or in heart




Genotype
MGI:3608524
cx5
Allelic
Composition
Nkx2-5tm1Siz/Nkx2-5tm1Siz
Nkx2-6tm1Siz/Nkx2-6+
Genetic
Background
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5tm1Siz mutation (0 available); any Nkx2-5 mutation (15 available)
Nkx2-6tm1Siz mutation (0 available); any Nkx2-6 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system
• mice homozygous for Nkx2-5tm1Siz and heterozygous for Nkx2-6tm1Siz lack endocardial cushion formation
• mice homozygous for Nkx2-5tm1Siz and heterozygous for Nkx2-6tm1Siz show an atrial phenotype similar to that observed in double homozygous mutant mice

respiratory system
• at E8.5 and E9.5, mice homozygous for Nkx2-5tm1Siz and heterozygous for Nkx2-6tm1Siz exhibit poor pharyngeal formation, similar to that observed in double homozygous mutant embryos




Genotype
MGI:5141005
cx6
Allelic
Composition
Cdc42tm1.1Yizh/Cdc42+
Nkx2-5tm1Siz/Nkx2-5+
Genetic
Background
involves: 129S4/SvJaeSor
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdc42tm1.1Yizh mutation (0 available); any Cdc42 mutation (37 available)
Nkx2-5tm1Siz mutation (0 available); any Nkx2-5 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• at 4 weeks of age
• at 4 weeks of age, mice exhibit decreased cardiac stroke volume compared with wild-type mice and single heterozygotes
• at 4 weeks of age, mice exhibit decreased cardiac function (reduced left ventricle ejection fraction, fractional shortening of the ventricular chamber, volume of ejected blood with each heart beat, and cardiac output) compared with wild-type mice or single heterozygotes
• mice exhibit prolonged QT and QTc intervals compared with wild-type mice

muscle
• at 4 weeks of age, mice exhibit decreased cardiac function (reduced left ventricle ejection fraction, fractional shortening of the ventricular chamber, volume of ejected blood with each heart beat, and cardiac output) compared with wild-type mice or single heterozygotes





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last database update
02/05/2019
MGI 6.13
The Jackson Laboratory