Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications

Delling, Jan Philipp; Boeckers, Tobias M.

doi:10.1186/s11689-021-09397-8

Table 2 Summary of the models and respective literature used to generate the database. Experiments from a total of 94 publications on SHANK3 deficiency were included in the database and categorized as described in Table 1

From: Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications

Code	Strategy	Addition	Literature
ex4-22\|ALL	KO	Murine	HET [92, 128, 130]; HOM [92, 128–130]
ex4-9\|ANK	KO	Murine	HET [78, 80, 122, 124, 167, 190, 200, 207, 209, 218, 220]; HOM [78, 80, 124, 128, 140, 154–156, 167, 177, 190, 209, 218, 220, 252]
ex4-7\|ANK	KO	Murine	HOM [90]
ex9\|ANK	KO	Murine	HOM [82, 175]
ex11\|SH3	KO	Murine	HET [123, 219]; HOM [111, 118, 123, 157, 193, 202, 203, 212, 219]
ex13\|PDZ	KO	Murine	HET [139, 176]; HOM [139, 176]
ex13-16\|PDZ	KO	Murine	HET [106, 140, 151, 166, 181, 188, 201, 209, 213, 214]; HOM [90, 94, 140, 151, 155, 158–166, 168, 181–183, 188, 189, 192, 205, 206, 208, 209, 211, 213–215]
ex13-16\|PDZ	cKI	Murine; Genetic restorationvia Cre-recombinase	HET [140, 196]; HOM [83, 160]
ex14-16\|PDZ	KO	Murine	HOM [131, 133]
ex21\|PRO	KO	Murine	HET [154, 156, 177–179, 194, 197–199]; HOM [125, 177–179, 191]
SHANK1 +SHANK3-ex11\|SH3	KO	Murine	HOM [138]
ex6\|ANK	KO	Rat	HET [134, 180, 216, 217]; HOM [134, 180, 217]
ex11-21\|SH3-PRO	KO	Rat	HET [135]; HOM [135]
ex6,ex12\|ANK,SH3	KO	Macaque	HET [137, 227]
ex21\|PRO	KO	Macaque	HET or HOM [136]
ex8\|ANK-Q321R	KI	Murine; Missense point mutation	HET [132]; HOM [132]
ex17\|PRM-S685I	KI	Murine; Missense point mutation	HET [94]; HOM [94]
ex21\|PRO-InsG3680	KI	Murine; Frameshift mutation	HET [127]; HOM [127, 210]
ex21\|PRO-R1117X	KI	Murine; Non-sense point mutation	HET [127]; HOM [127]
ex21\|PRO-InsG3728	KI	Murine; Frameshift mutation	HET [126, 187]; HOM [126, 187]
ex4-22\|ALL-NEX^Cre	cKO	Murine; Affecting neocortical excitatory neurons	HOM [129]
ex4-22\|ALL-Dlx5/6^Cre	cKO	Murine; Affecting GABAergic forebrain neurons	HOM [129]
ex4-22\|ALL-Drd1^Cre	cKO	Murine; Affecting DRD1-positive neurons	HOM [129]
ex4-22\|ALL-Drd2^Cre	cKO	Murine; Affecting DRD2-positive neurons	HOM [129]
ex4-22\|ALL-Nav1.8^Cre	cKO	Murine; Affecting Nav1.8-positive cells	HET [92]; HOM [92]
ex13-16\|PDZ-Advillin^Cre	cKO	Murine; Affecting somatosensory neurons	HET [140]; HOM [140]
ex13-16\|PDZ-Cdx2^Cre	cKO	Murine; Affecting caudal embryonic lineage	HET [140]
ex14-16\|PDZ-Viaat^Cre	cKO	Murine; Affecting GABAergic cells	HOM [131]
ex14-16\|PDZ-Emx1^Cre	cKO	Murine; Affecting excitatory neurons and glia	HOM [133]
SHANK3-eGFP	TG	Murine; Overexpression of SHANK3	HEM [93, 96, 151, 205, 228–231]

KO knockout, KI knockin, cKO conditional KO, cKI conditional KI, TG transgenic, HET heterozygous, HOM homozygous, HEM hemizygous

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ISSN: 1866-1955

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