Phenotypes associated with this allele

• Allele Symbol: Serpina1^em#Chmu
• Allele Name: endonuclease-mediated mutation, Christian Mueller
• Allele ID: MGI:6358591
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Serpina1^em#Chmu/Serpina1^em#Chmu	involves: C57BL/6J	MGI:6358603

Genotype
MGI:6358603

hm1

• Allelic Composition: Serpina1^em#Chmu/Serpina1^em#Chmu
• Genetic Background: involves: C57BL/6J

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

immune system

increased susceptibility to endotoxin shock ( J:259615 )

• mice exposed to a mild LPS challenge exhibit pulmonary mechanics phenotypes indicative of emphysema

respiratory system inflammation ( J:259615 )

• lung bronchoalveolar lavage fluid shows an increase in neutrophil, monocyte, lymphocyte and macrophage counts in 42 week old, but not 8 week old, mice

respiratory system

respiratory system inflammation ( J:259615 )

• lung bronchoalveolar lavage fluid shows an increase in neutrophil, monocyte, lymphocyte and macrophage counts in 42 week old, but not 8 week old, mice

dilated pulmonary alveolar duct ( J:259615 )

• the alveolar ducts are enlarged after a mild LPS exposure

• 70 week old unchallenged mice show enlargement of the alveolar ducts

overexpanded pulmonary alveolus ( J:259615 )

• the alveoli are enlarged after a mild LPS exposure

• 70 week old unchallenged mice show enlargement of the alveoli

emphysema ( J:259615 )

• unchallenged aged mice develop spontaneous emphysema with early signs detectable at 35 weeks of age and clear emphysematous phenotype at 50 weeks of age

• mice exposed to a mild LPS challenge exhibit pulmonary mechanics phenotypes indicative of emphysema

decreased lung elastance ( J:259615 )

• elastance is decreased in 50 week old mice

abnormal lung volume ( J:259615 )

• mice on average have a 22% higher lung volume and higher total surface area after exposure to a mild LPS challenge

abnormal inspiratory capacity ( J:259615 )

• mice exposed to a mild LPS challenge exhibit increased inspiratory capacity

increased lung compliance ( J:259615 )

• mice exposed to a mild lipopolysaccharide (LPS) challenge show increased lung compliance as indicated by a pressure-volume loop that is shifted up and to the left

• at 35 weeks of age, the pressue-volume loop shows increased compliance as evidenced by a shift upwards and the quasistatic compliance is increased, with larger differences at 50 weeks of age

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:259615 )

• lung bronchoalveolar lavage fluid shows an increase in elastase activity with age, with a 2.2-fold difference at 8 weeks and 5.7-fold difference at 42 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
alpha 1-antitrypsin deficiency		DOID:13372	OMIM:613490	J:259615
pulmonary emphysema		DOID:9675	OMIM:130700	J:259615