Phenotypes associated with this allele

• Allele Symbol: Npas3^tm1Mesu
• Allele Name: targeted mutation 1, Mary E Sunday
• Allele ID: MGI:3852356
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Npas3^tm1Mesu/Npas3^tm1Mesu	B6.129S6-Npas3^tm1Mesu	MGI:3852378
ht2	Npas3^tm1Mesu/Npas3^+	B6.129S6-Npas3^tm1Mesu	MGI:3852379

Genotype
MGI:3852378

hm1

• Allelic Composition: Npas3^tm1Mesu/Npas3^tm1Mesu
• Genetic Background: B6.129S6-Npas3^tm1Mesu

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:150793 )

• 95% of mice die by 48 hours

respiratory system

bronchiectasis ( J:150793 )

• mice have only patches of future alveolar tissue interspersed with dilated airways giving the appearance of bronchiectasis

impaired branching involved in trachea morphogenesis ( J:150793 )

• at E11.5, E12.5, and E13.5, branching of the lung buds is significantly reduced compared to in wild-type mice

• branching morphogenesis is restored in E11.5 lung buds cultured with FGF10, though not to the extent seen in wild-type controls

• however, migration of lung epithelial cells is defective regardless of FGF10 treatment

overexpanded pulmonary alveolus ( J:150793 )

• mean linear intercepts of lungs at P1 and 4 months are greater than in wild-type lungs

abnormal pulmonary alveolar parenchyma morphology ( J:150793 )

• at P1, alveolar parenchyma is reduced compared to in wild-type mice

dilated respiratory conducting tube ( J:150793 )

• at P1, conducting airways are massively dilated, unlike in wild-type mice

respiratory distress ( J:150793 )

• within hours of birth

homeostasis/metabolism

cyanosis ( J:150793 )

• within hours of birth

immune system

bronchiectasis ( J:150793 )

• mice have only patches of future alveolar tissue interspersed with dilated airways giving the appearance of bronchiectasis

Genotype
MGI:3852379

ht2

• Allelic Composition: Npas3^tm1Mesu/Npas3⁺
• Genetic Background: B6.129S6-Npas3^tm1Mesu

respiratory system

abnormal lung vasculature morphology ( J:150793 )

• lungs have only a few dysmoprhic subpleural capillaries unlike wild-type lungs

impaired lung alveolus development ( J:150793 )

• mice exhibit defects in alveolar septation resulting in lungs that resemble centrilobular emphysema

• adult mice have decreased alveolarization compared with wild-type mice

overexpanded pulmonary alveolus ( J:150793 )

• mean linear intercepts of lungs at P1 and 4 months are greater than in wild-type lungs

emphysema ( J:150793 )

• mice exhibit defects in alveolar septation resulting in lungs that resemble centrilobular emphysema

• adult mice exhibit centriacinar emphysema

increased airway resistance ( J:150793 )

• at 3 and 4 months, but not at 6 months, airway resistance during methacholine challenge is increased compared to in wild-type mice

cardiovascular system

abnormal lung vasculature morphology ( J:150793 )

• lungs have only a few dysmoprhic subpleural capillaries unlike wild-type lungs