TABLE 3.

Comparison of the nym mouse with Gnptab knock-in and knock-out mouse

MLII model	Murine nym mutant	Murine knock-out	Murine knock-in
Mutation	Patient mutation (c.2664C>G) in mouse: c.2601T>A leading to a truncation mutation	Gnptab Gene TRAP mouse (22)	Patient mutation (c.3145insC) leading to a protein truncation G1028X (43)
Phenotype	Reduced life span	Normal life span	Reduced life span
	Growth retardation	Growth retardation	Growth retardation
	Skeletal abnormalities	No skeletal abnormalities	Skeletal abnormalities
	Craniofacial defects	No craniofacial defects	Craniofacial defects
	Ataxic gait and reduced muscle strength and motor coordination analyzed by catwalk, rotarod, and inverted screen	No report of ataxic gate	Presented with ataxic gait
	Mental retardation shown by the spontaneous alternation task	No report of behavioral dullness	No report of behavioral dullness
	Inclusion bodies present in fibroblasts	Inclusion bodies present in secretory organs (pancreas) and connective tissue (cartilage)	Inclusion bodies present in fibroblasts
	Not analyzed	Retinal impairments	Retinal impairments