All Phenotypes Nkx2-5<tm1Siz> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nkx2-5^tm1Siz/Nkx2-5^tm1Siz	involves: 129S4/SvJaeSor * C57BL/6J	MGI:2175147
ht2	Nkx2-5^tm1Siz/Nkx2-5⁺	involves: 129S4/SvJaeSor	MGI:3623792
cx3	Nkx2-5^tm1Siz/Nkx2-5^tm1Siz Nkx2-6^tm1Siz/Nkx2-6⁺	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J	MGI:3608524
cx4	Nkx2-5^tm1Siz/Nkx2-5^tm1Siz Nkx2-6^tm1Siz/Nkx2-6^tm1Siz	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J	MGI:3608504
cx5	Nkx2-5^tm1Siz/Nkx2-5⁺ Nkx2-6^tm1Siz/Nkx2-6^tm1Siz	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J	MGI:3608505
cx6	Cdc42^tm1.1Yizh/Cdc42⁺ Nkx2-5^tm1Siz/Nkx2-5⁺	involves: 129S4/SvJaeSor	MGI:5141005

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:52597 )

• homozygotes die between E9.5 and E11.5

cardiovascular system

abnormal dorsal aorta morphology ( J:52597 )

• at E9.5, homozygotes display a poorly developed dorsal aorta

abnormal intersomitic artery morphology ( J:52597 )

• at E9.5, homozygotes exhibit poorly developed intersomitic arteries

pharyngeal arch artery hypoplasia ( J:52597 )

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

abnormal vitelline vasculature morphology ( J:52597 )

• at E9.5, mutant yolk sacs contain only large vascular channels with few blood cells

absent vitelline blood vessels ( J:52597 )

• at E9.5, mutant yolk sacs lack large vitelline blood vessels

absent myocardial trabeculae ( J:52597 )

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

abnormal cardiac outflow tract development ( J:52597 )

• at E9.5, homozygotes exhibit a poorly developed, stenotic outflow tract

abnormal heart development ( J:52597 )

• homozygotes display abnormal cardiac development after correct rightward looping of the heart tube

abnormal fetal atrioventricular canal morphology ( J:52597 )

• at E9.5, the mutant AV canal remains wide open as opposed to displaying a narrow luminal diameter; the bulboventricular sulcus fails to form

absent atrioventricular cushions ( J:52597 )

• at E9.5, homozygotes display lack of endocardial cushion formation

common ventricle ( J:52597 )

• at E9.5, homozygotes exhibit a single ventricle that is abruptly connected to an abnormal outflow tract

pericardial effusion ( J:52597 )

• at E10.5, homozygotes display massive pericardial effusion

embryo

embryonic growth retardation ( J:52597 )

• at E10.5, homozygotes exhibit severe growth retardation

abnormal embryonic tissue morphology ( J:52597 )

pharyngeal arch artery hypoplasia ( J:52597 )

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

abnormal extraembryonic tissue morphology ( J:52597 )

abnormal vitelline vasculature morphology ( J:52597 )

• at E9.5, mutant yolk sacs contain only large vascular channels with few blood cells

absent vitelline blood vessels ( J:52597 )

• at E9.5, mutant yolk sacs lack large vitelline blood vessels

abnormal visceral yolk sac morphology ( J:52597 )

• at E9.5, mutant yolk sacs show abnormal separation of the endodermal and mesodermal layers

excessive folding of visceral yolk sac ( J:52597 )

• at E9.5, mutant yolk sacs exhibit excessive surface folding

pale yolk sac ( J:52597 )

abnormal embryonic hematopoiesis ( J:52597 )

hematopoietic system

abnormal embryonic hematopoiesis ( J:52597 )

anemia ( J:52597 )

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

growth/size/body

embryonic growth retardation ( J:52597 )

• at E10.5, homozygotes exhibit severe growth retardation

respiratory system

pharynx hypoplasia ( J:69976 )

• 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

decreased cell proliferation ( J:69976 )

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

muscle

absent myocardial trabeculae ( J:52597 )

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

craniofacial

pharyngeal arch artery hypoplasia ( J:52597 )

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

homeostasis/metabolism

pericardial effusion ( J:52597 )

• at E10.5, homozygotes display massive pericardial effusion

Allelic Composition	Nkx2-5^tm1Siz/Nkx2-5⁺
Genetic Background	involves: 129S4/SvJaeSor

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5^tm1Siz mutation (0 available); any Nkx2-5 mutation (21 available)

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

cardiovascular system

abnormal Purkinje fiber morphology ( J:89216 )

• ventricles have approximately half as many Purkinje cells as wild-type

decreased ventricle muscle contractility ( J:174208 )

• at 8 and 12 weeks, mice exhibit decreased fractional shortening and ejection fraction compared with wild-type mice

abnormal impulse conducting system conduction ( J:89216 )

• 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

atrioventricular block ( J:89216 )

• diminished AV node function

• heterozygotes as old as 2 years, do not progress beyond first-degree AV block

prolonged PR interval ( J:89216 )

• prolonged PR interval at 7 weeks of age or older resulting from prolongation of the AH interval

prolonged QRS complex duration ( J:89216 , J:174208 )

• prolonged QRS interval at all ages (J:89216)

muscle

abnormal Purkinje fiber morphology ( J:89216 )

• ventricles have approximately half as many Purkinje cells as wild-type

decreased ventricle muscle contractility ( J:174208 )

• at 8 and 12 weeks, mice exhibit decreased fractional shortening and ejection fraction compared with wild-type mice

Allelic Composition	Nkx2-5^tm1Siz/Nkx2-5^tm1Siz Nkx2-6^tm1Siz/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:
Nkx2-5^tm1Siz mutation (0 available); any Nkx2-5 mutation (21 available)
Nkx2-6^tm1Siz mutation (0 available); any Nkx2-6 mutation (19 available)

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

mortality/aging

embryonic lethality during organogenesis ( J:69976 )

cardiovascular system

absent atrioventricular cushions ( J:69976 )

• mice homozygous for Nkx2-5^tm1Siz and heterozygous for Nkx2-6^tm1Siz lack endocardial cushion formation

abnormal heart atrium morphology ( J:69976 )

• mice homozygous for Nkx2-5^tm1Siz and heterozygous for Nkx2-6^tm1Siz show an atrial phenotype similar to that observed in double homozygous mutant mice

respiratory system

abnormal pharynx morphology ( J:69976 )

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

Allelic Composition	Nkx2-5^tm1Siz/Nkx2-5^tm1Siz Nkx2-6^tm1Siz/Nkx2-6^tm1Siz
Genetic Background	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J

Find Mice

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:69976 )

• double homozygotes die at E10.5

cardiovascular system

absent atrioventricular cushions ( J:69976 )

• double homozygous mutant hearts lack endocardial cushion formation

abnormal heart atrium morphology ( J:69976 )

• double homozygotes exhibit a less clear distinction between the atrium and ventricle; the expansion of the common atrium is significantly less extensive relative to Nkx2-5^tm1Siz mutant embryos

• in addition, differentiation of atrial myocytes appears to be retarded

pericardial effusion ( J:69976 )

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

growth/size/body

embryonic growth retardation ( J:69976 )

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

respiratory system

pharynx hypoplasia ( J:69976 )

• 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

increased apoptosis ( J:69976 )

• 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

decreased cell proliferation ( J:69976 )

• at E8.75, double homozygotes exhibit reduced proliferation of pharyngeal endodermal cells

embryo

embryonic growth retardation ( J:69976 )

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

abnormal pharyngeal pouch morphology ( J:69976 )

• double homozygotes fail to form pharyngeal pouches, as shown by loss of Pax9 expression in the endoderm of pharyngeal pouches

homeostasis/metabolism

pericardial effusion ( J:69976 )

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

Allelic Composition	Nkx2-5^tm1Siz/Nkx2-5⁺ Nkx2-6^tm1Siz/Nkx2-6^tm1Siz
Genetic Background	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J

Find Mice

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

normal phenotype

no abnormal phenotype detected ( J:69976 )

• mice heterozygous for Nkx2-5^tm1Siz and homozygous for Nkx2-6^tm1Siz are viable and fertile and display no detectable abnormalities either in pharynx or in heart

Allelic Composition	Cdc42^tm1.1Yizh/Cdc42⁺ Nkx2-5^tm1Siz/Nkx2-5⁺
Genetic Background	involves: 129S4/SvJaeSor

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdc42^tm1.1Yizh mutation (0 available); any Cdc42 mutation (43 available)
Nkx2-5^tm1Siz mutation (0 available); any Nkx2-5 mutation (21 available)

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

cardiovascular system

decreased cardiac output ( J:174208 )

• at 4 weeks of age

decreased cardiac stroke volume ( J:174208 )

• at 4 weeks of age, mice exhibit decreased cardiac stroke volume compared with wild-type mice and single heterozygotes

decreased ventricle muscle contractility ( J:174208 )

• 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

prolonged P wave ( J:174208 )

prolonged QRS complex duration ( J:174208 )

prolonged QT interval ( J:174208 )

• mice exhibit prolonged QT and QTc intervals compared with wild-type mice

muscle

decreased ventricle muscle contractility ( J:174208 )

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/23/2024 MGI 6.23