D167N mice develop short stature postnatally (IMAGE)
Caption
A: Genotype distribution at postnatal day (P) 7 shows a reduced percentage of D167N pups (expected: 25%), indicating reduced survival. Numbers of pups/genotype are indicated. B: Appearance of wild-type (WT) and D167N mice at P14. C: Body length (tail to nose) and body weight of D167N mice at P14 are significantly reduced. y-Axis break (dashed lines) was used. D: Domain organization of ADAMTSL2 shows location of D167N and other GD1-causing mutations (dashes). Location of the ADAMTSL2 mutations that resulted in experimentally validated reduced protein secretion are indicated by red dashes. E: Western blot analysis detection of Myc-tagged WT and ADAMTSL2 D167N in cell lysate (Lys) or conditioned medium (Med) after transient overexpression in HEK-293 cells shows strong reduction of full-length D167N secretion. Arrow shows secreted full-length ADAMTSL2, and boxed area shows the bands representing glyceraldehyde-3-phosphate dehydrogenase (GAPDH) as loading control. F: Quantification of integrated density (int. dens.) of full-length ADAMTSL2 (upper band in medium samples) normalized to integrated density of GAPDH. C and F: Two-sample t-test was used. n = 92 mice (A); n = 7 mice per genotype (C); n = 4 (F). ∗∗P < 0.05, ∗∗∗∗P < 0.0001.
Credit
The American Journal of Pathology / Lin et al.
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