Phenotypes associated with this allele

• Allele Symbol: Nkx2-1^tm1Jaw
• Allele Name: targeted mutation 1, Jeffrey A Whitsett
• Allele ID: MGI:2677488
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nkx2-1^tm1Jaw/Nkx2-1^tm1Jaw	B6.129-Nkx2-1^tm1Jaw	MGI:4941963
hm2	Nkx2-1^tm1Jaw/Nkx2-1^tm1Jaw	involves: 129S2/SvPas * CD-1	MGI:2677493

Genotype
MGI:4941963

hm1

• Allelic Composition: Nkx2-1^tm1Jaw/Nkx2-1^tm1Jaw
• Genetic Background: B6.129-Nkx2-1^tm1Jaw

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

mortality/aging

neonatal lethality, complete penetrance ( J:169693 )

• presumably from respiratory failure

endocrine/exocrine glands

abnormal thyroid gland development ( J:169693 )

• at E11.5, the thyroid bud is smaller than in wild-type mice

• at E16.5, the thyroid mass is reduced and folliculogenesis is impaired compared to in wild-type mice

respiratory system

abnormal lung morphology ( J:169693 )

respiratory failure ( J:169693 )

Genotype
MGI:2677493

hm2

• Allelic Composition: Nkx2-1^tm1Jaw/Nkx2-1^tm1Jaw
• Genetic Background: involves: 129S2/SvPas * CD-1

mortality/aging

neonatal lethality, complete penetrance ( J:85424 )

• mice are alive at birth but die rapidly afterwards due to respiratory failure

respiratory system

abnormal lung vasculature morphology ( J:85424 )

• decrease in PECAM staining surrounding dilated peripheral lung tubules indicates deficits in vasculogenesis

abnormal mesenchymal cell differentiation involved in lung development ( J:85424 )

• failure of peripheral mesenchymal differentiation as indicated by extensive staining for alphaSMA surrounding the dilated peripheral tubules

abnormal branching involved in lung morphogenesis ( J:85424 )

• while lobulation and early branching morphogenesis were intact, later stages of development are affected, with arrest of late branching morphogenesis

impaired branching involved in respiratory bronchiole morphogenesis ( J:85424 )

• formation and differentiation of peripheral bronchioles and acini are lacking

abnormal lung saccule morphology ( J:85424 )

• reduction in numbers of terminal alveolar saccules

pulmonary hypoplasia ( J:85424 )

abnormal pulmonary acinus morphology ( J:85424 )

• formation and differentiation of peripheral bronchioles and acini are lacking

abnormal pulmonary alveolus epithelial cell morphology ( J:85424 )

• squamous cell differentiation is lacking in the lung periphery, suggesting arrested terminal differentiation of type II cells

dilated respiratory conducting tube ( J:85424 )

• mutants exhibit abnormally dilated peripheral lung tubules indicating defects in the formation of the lung parenchyma

respiratory failure ( J:85424 )

cardiovascular system

abnormal lung vasculature morphology ( J:85424 )

• decrease in PECAM staining surrounding dilated peripheral lung tubules indicates deficits in vasculogenesis

cellular

abnormal mesenchymal cell differentiation involved in lung development ( J:85424 )

• failure of peripheral mesenchymal differentiation as indicated by extensive staining for alphaSMA surrounding the dilated peripheral tubules