All Phenotypes Rab38<cht> MGI Mouse

abnormal coat/hair pigmentation ( J:13967 , J:75774 , J:143433 )

• dark brown coat color by weaning instead of non-agouti black of C57BL/6J strain (J:75774)

• a rich dark brown coat is observed instead of a normal black coat (J:143433)

abnormal hair follicle melanogenesis ( J:143433 )

• a visible decrease in melanin levels is observed in hair follicles of the skin

abnormal skin pigmentation ( J:75774 , J:143433 )

• lighter color pigmentation at birth compared to littermates (J:75774)

• a lighter skin pigmentation is observed in the ear and tail (J:143433)

abnormal eye pigmentation ( J:75774 )

• lighter color pigmentation at birth compared to littermates

abnormal iris pigmentation ( J:141035 )

• iris pigment exhibits mild transilluminations increasing peripherally

decreased eye pigmentation ( J:143433 )

• a thinner pigment layer is observed in the retina and choroid

abnormal melanosome morphology ( J:75774 )

• melanocytes contain small, circular melanosomes with a brown hue that are distinct from the intensely black, oval melanosomes seen in control non-agout C57BL/6J mice

abnormal eye pigmentation ( J:75774 )

• lighter color pigmentation at birth compared to littermates

abnormal iris pigmentation ( J:141035 )

• iris pigment exhibits mild transilluminations increasing peripherally

decreased eye pigmentation ( J:143433 )

• a thinner pigment layer is observed in the retina and choroid

abnormal pulmonary acinus morphology ( J:143433 )

• the mean linear intercept, destructive index, and volume proportion of alveolar ducts and sacs are significantly increased at 24 weeks of age, indicating alveolar structural abnormalities

• however, no severe emphysematous changes or apparent signs of inflammation are observed

abnormal type II pneumocyte morphology ( J:143433 )

• at 18 weeks of age, alveolar type II cells are enlarged and contain lamellar bodies of increased size in larger numbers

• however, no differences in either alveolar type II cells or lamellar bodies are noted at E17

enlarged alveolar lamellar bodies ( J:143433 )

• at 18 weeks of age, the size of lamellar bodies is significantly increased

• adult lamellar bodies are engorged with surfactant

increased alveolar lamellar body number ( J:143433 )

• at 18 weeks of age, the number of lamellar bodies is significantly increased

dilated pulmonary alveolar duct ( J:143433 )

• at 24 weeks of age

abnormal pulmonary alveolus wall morphology ( J:143433 )

• the volume proportion of the alveolar wall is significantly reduced at 12 and 24 weeks of age

dilated respiratory conducting tube ( J:143433 )

• enlarged lower respiratory tract airspaces are observed at 12 and 24 weeks of age

abnormal lung volume ( J:143433 )

• significantly higher total lung volumes are observed at 12 and 24 weeks of age, as determined by water displacement

• lung volume at 25 cmH2O airway pressure is significantly higher than that in wild-type mice

increased lung compliance ( J:143433 )

• static lung compliance is significantly higher than that in wild-type mice

• however, specific lung compliance (i.e. static lung compliance divided by the lung volume at 25 cmH2O airway pressure) is not significantly altered

• airway opening pressure and the hysteresis ratio remain normal

abnormal surfactant secretion ( J:143433 )

• surfactant protein B (SP-B) is increased in the lung homogenate but decreased in the BAL fluid

• phosphatidylcholine and total phospholipid levels are increased in the lamellar body fraction and the lung homogenates, but no differences are seen in the BAL fluid