Phenotypes associated with this allele

• Allele Symbol: Lamp3^em1Damme
• Allele Name: endonuclease-mediated mutation 1, Markus Damme
• Allele ID: MGI:7434942
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lamp3^em1Damme/Lamp3^em1Damme	involves: C57BL/6N	MGI:7434943

Genotype
MGI:7434943

hm1

• Allelic Composition: Lamp3^em1Damme/Lamp3^em1Damme
• Genetic Background: involves: C57BL/6N

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

mortality/aging

mortality/aging ( J:324174 )

N • surprisingly, mice are born at normal Mendelian ratios and survive the weaning phase; no premature death is observed up to 15 months of age

respiratory system

respiratory system phenotype ( J:324174 )

N • under basal conditions, adult mice exhibit normal lung microanatomy and show no macroscopic signs of multifocal emphysema or edema; no defects in lung volume or pulmonary function are observed

abnormal alveolar lamellar body morphology ( J:324174 )

• TEM revealed rare changes in lamellar body ultrastructure: 1 of 3 mice analyzed showed conspicuous lamellar bodies consisting of multiple clews of lipid lamellae located within shared limiting membranes

increased airway resistance ( J:324174 )

• under diseased conditions, evoked by OVA-induced experimental asthma, mice exhibit significantly increased airway resistance in response to 100 mg/ml methacholine provocation

• in contrast, baseline airway resistance values are normal relative to OVA-sensitized and challenged wild-type controls

increased airway responsiveness ( J:324174 )

• under diseased conditions, evoked by OVA-induced experimental asthma, mice exhibit significantly increased airway responsiveness to 100 mg/ml methacholine challenge relative to wild-type controls

• however, diseased mice show normal mucus production and no major differences in the number of inflammatory cells in the BAL or apoptotic cells in lung tissues relative to wild-type controls

abnormal surfactant physiology ( J:324174 )

• measurements of surface tension at maximum (gammamax) and minimum (gammamin) bubble size by a pulsating bubble surfactometer revealed slightly increased surfactant adsorption properties

abnormal surfactant composition ( J:324174 )

• under basal conditions, BAL lipidome analysis showed mild but significant changes in lipid composition, mainly affected by a relative reduction in the abundance of phosphatidylglycerol (PG), lysophosphatidylglycerol (LPG) and diacylglycerol (DAG); sphingomyelin (SM) is increased whereas phosphatidylinositol (PI) and lysophosphatidylinositol (LPI) are decreased

• in response to experimentally induced asthma, BAL lipid changes are aggravated and affect a wider range of lipid species: PG, LPG, and DAG are further decreased while PI, LPI, phosphatidylserine (PS), ceramide, and SM show increased abundance

increased surfactant secretion ( J:324174 )

• immunoblots of lung tissue lysates showed normal levels of pro-surfactant protein B (pro-SP-B), a significant increase in mature SP-B, and a striking increase in pro-SP-C levels

• however, immunofluorescence analysis showed no major changes in the staining pattern of the essential lamellar body (LB) proteins ABCA3 or mature SP-B

immune system

increased macrophage cell number ( J:324174 )

• under basal conditions, adult mice show a moderate but significant increase in the number of macrophages in the broncho-alveolar lavage (BAL) fluid, with a non-significant trend toward increased numbers of lymphocytes and neutrophils

hematopoietic system

increased macrophage cell number ( J:324174 )

• under basal conditions, adult mice show a moderate but significant increase in the number of macrophages in the broncho-alveolar lavage (BAL) fluid, with a non-significant trend toward increased numbers of lymphocytes and neutrophils