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. 2016 May 25;24(9):1235–1243. doi: 10.1038/ejhg.2016.35

Table 3. Mbd5 mouse models display features of 2q23.1 deletion syndrome.

  Mbd5 KO (Mbd5−/−)a,b Mbd5 BKOc (Mbd5f/-, Nestin-Cre)a Mbd5 hypomorph (Mbd5GT/GT)d Mbd5 hypomorph (Mbd5+/GT)d
Phenotypes Severe growth retardation Died before weaning No weight gain Decreased brain weight Reduction in perigonadal and subcutaneous fat Reduced somatotropic signaling Decreased pituitary GH stores Reduced IGF-1 serum levels Insulin hypersensitivity Hemochromatosis Severe growth retardation Pre-weaning lethality Defects in somatotropic axis Lower serum GH and IGF-1 levels Failure to thrive 90% died prenatally Small Reduced body weight Reduction in abdominal fat Abnormal nasal bone that results in deviation of snout Reduced neuromuscular strength Reduced forepaw strength Motor deficit No anxiety Abnormal social behavior Impaired learning and memory
a

Du et al.25

b

Tao et al.27

c

Brain-specific Mbd5 conditional knockout.

d

Camarena et al.26