Phenotypes associated with this allele

• Allele Symbol: Nkx2-1⁺
• Allele Name: wild type
• Allele ID: MGI:2434139
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Nkx2-1^tm1Shk/Nkx2-1^+	involves: 129S4/SvJae	MGI:4887864
ht2	Nkx2-1^tm1Shk/Nkx2-1^+	involves: 129S4/SvJae * C57BL/6 * CD-1	MGI:4949673
cx3	Foxe1^tm1Rdl/Foxe1^tm1Rdl Nkx2-1^tm1Rdl/Nkx2-1^+	B6.129-Foxe1^tm1Rdl Nkx2-1^tm1Rdl	MGI:3525566
cx4	Gata6^tm1Msp/Gata6^+ Nkx2-1^tm1Shk/Nkx2-1^+	involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 * CD-1	MGI:4949670

Genotype
MGI:4887864

ht1

• Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1⁺
• Genetic Background: involves: 129S4/SvJae

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

behavior/neurological

impaired coordination ( J:74696 )

• at 8-14 weeks of age, heterozygotes display impaired motor coordination in the rotator test

homeostasis/metabolism

increased circulating thyroid-stimulating hormone level ( J:74696 )

• at 8-14 weeks of age, heterozygotes show significantly higher serum TSH levels than wild-type controls

• however, serum thyroxine (T4) levels remain normal and no goiter is observed

Genotype
MGI:4949673

ht2

• Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CD-1

respiratory system

decreased surfactant secretion ( J:117072 )

• at 3-5 months of age, heterozygotes show a small but significant reduction in phospholipid content in bronchioalveolar lavage fluid

Genotype
MGI:3525566

cx3

• Allelic Composition: Foxe1^tm1Rdl/Foxe1^tm1Rdl; Nkx2-1^tm1Rdl/Nkx2-1⁺
• Genetic Background: B6.129-Foxe1^tm1Rdl Nkx2-1^tm1Rdl

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:95017 )

N • thyroid bud migration is normal unlike in Foxe1^tm1Rdl single homozygotes

Genotype
MGI:4949670

cx4

• Allelic Composition: Gata6^tm1Msp/Gata6⁺; Nkx2-1^tm1Shk/Nkx2-1⁺
• Genetic Background: involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 * CD-1

mortality/aging

postnatal lethality, incomplete penetrance ( J:117072 )

• only 7% (instead of expected 25%) of double heterozygotes are recovered at 2 weeks of age

• however, normal numbers are obtained prior to birth (E18.5)

respiratory system

abnormal lung development ( J:117072 )

• at E18.5, airway development and differentiation of the distal epithelium are severely impaired, as shown by increased mesenchymal thickness, reduced sacculation, decreased surfactant production and increased glycogen content

• however, lung-to-body weight ratios and tidal volumes are not significantly altered

abnormal lung saccule morphology ( J:117072 )

• at E18.5, lung sacculation is significantly reduced in the distal airways

thick lung-associated mesenchyme ( J:117072 )

• at E18.5, a 2-fold increase in mesenchymal thickness is observed

abnormal lung epithelium morphology ( J:117072 )

• at E18.5, lung epithelial differentiation is severely impaired, as shown by a more focal surfactant protein C (SP-C) protein expression pattern, reduced CC10 (Clara-cell-marker) protein expression, and a more tight, focal expression of aquaporin-5 and SP-C that is less evenly distributed throughout the distal airspaces

abnormal pulmonary alveolus epithelium morphology ( J:117072 )

• distal airway cells are lined with large cuboidal cells that contain large glycogen-filled vacuoles but lack lamellar bodies

absent alveolar lamellar bodies ( J:117072 )

• lamellar bodies are either absent or only rarely observed

decreased surfactant secretion ( J:117072 )

• at 3-5 months of age, a ~60% reduction in phospholipid content is noted in bronchioalveolar lavage fluid