Phenotypes associated with this allele

• Allele Symbol: Sftpc^tm1Swg
• Allele Name: targeted mutation 1, Stephan W Glasser
• Allele ID: MGI:2387813
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sftpc^tm1Swg/Sftpc^tm1Swg	either: 129 or (involves: 129 * Black Swiss)	MGI:3037342
hm2	Sftpc^tm1Swg/Sftpc^tm1Swg	involves: 129/Sv * Black Swiss	MGI:4950708

Genotype
MGI:3037342

hm1

• Allelic Composition: Sftpc^tm1Swg/Sftpc^tm1Swg
• Genetic Background: either: 129 or (involves: 129 * Black Swiss)

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

Airspace remodeling, stromal thickening and monocytic infiltration in the lungs of Sftpc^tm1Swg/Sftpc^tm1Swg mice

mortality/aging

early reproductive senescence ( J:82925 )

• fecundity was reduced by 2 months of age

• very few litters were produced after 6 months of age

behavior/neurological

poor grooming ( J:82925 )

• deteriorating coat condition after 2 months of age

growth/size/body

weight loss ( J:82925 )

• 24% reduction in body weight by 1 year of age

immune system

conjunctivitis ( J:82925 )

reproductive system

early reproductive senescence ( J:82925 )

• fecundity was reduced by 2 months of age

• very few litters were produced after 6 months of age

respiratory system

abnormal lung morphology ( J:82925 )

abnormal lung vasculature morphology ( J:82925 )

• alveolar capillary walls are thickened or obliterated by surrounding stroma and collagen

abnormal bronchus epithelium morphology ( J:82925 )

• epithelial cell dysplasia present by 6-12 months

• non ciliated columnar epithelia found with characteristics of Clara cells

abnormal lung interstitium morphology ( J:82925 )

• interstitial thickening of the lung parenchyma

• perivascular and peribronchiolar monocyte infiltration in severely affected individuals

abnormal pulmonary alveolus morphology ( J:82925 )

• enlarged by 2 months

• irregular alveolar septation and shortened septal tips

• loss of alveolar elastin fibers

• fibrosis and collagen deposition at thickened alveolar septal structures

• some alveolar spaces obliterated by 12 months of age

abnormal pulmonary alveolus epithelial cell morphology ( J:82925 )

increased alveolar lamellar body number ( J:82925 )

• excessive lamellar bodies in type II cells

increased type II pneumocyte number ( J:82925 )

• hyperplasia of type II cells

overexpanded pulmonary alveolus ( J:82925 )

• enlarged by 2 months

abnormal pulmonary interalveolar septum morphology ( J:82925 )

• irregular alveolar septation and shortened septal tips

• fibrosis and collagen deposition at thickened alveolar septal structures

emphysema ( J:82925 )

• regions of severe emphysema with septal thinning and degeneration of pulmonary capillaries

abnormal pulmonary elastic fiber morphology ( J:82925 )

• loss of alveolar elastin fibers

increased airway resistance ( J:82925 )

• airway resistance is increased

vision/eye

conjunctivitis ( J:82925 )

cardiovascular system

abnormal lung vasculature morphology ( J:82925 )

• alveolar capillary walls are thickened or obliterated by surrounding stroma and collagen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
desquamative interstitial pneumonia		DOID:0050158	OMIM:263000	J:82925

Genotype
MGI:4950708

hm2

• Allelic Composition: Sftpc^tm1Swg/Sftpc^tm1Swg
• Genetic Background: involves: 129/Sv * Black Swiss

respiratory system

respiratory system phenotype ( J:69619 )

N • normal survival and growth with no adverse effects on health or pulmonary function

N • normal morphogenesis of the conducting and peripheral airways with no signs of inflammation

N • normal alveolar structure and distribution of type II cells throughout the lung parenchyma

N • normal surfactant lipid pool sizes and surfactant synthesis

N • normal lamellar bodies present in type II alveolar cells

N • normal tubular myelin present in the alveolar lumen

abnormal lung hysteresivity ( J:69619 )

• all mutant mice display significantly lower hysteresivity at each low, positive-end expiratory pressure tested (PEEP of 0, 1, 2, and 4 cm H₂O), indicating reduced lung viscoelasticity

• however, no significant changes are noted in airway resistance or in coefficients for tissue resistance and tissue elastance relative to wild-type controls

abnormal surfactant physiology ( J:69619 )

• surface tension measurements using a reduced bubble volume indicate bubble-surface film instability, unlike in wild-type surfactant preparations

• decreased stability of surfactant bubbles is only detected at small radii where phospholipid packing is high, indicating abnormal stabilization of surfactant at low lung volumes