TABLE I.

Phenotypic Features of Single Gene Mouse Models of WS

Gene	Phenotype	References
Fkbp6	Heterozygotes: fertile, with no phenotype observed Homozygotes: males have abnormal spermatocyte pairing resulting in aspermia and infertility	Crackower et al. [2003]
Fzd9	Heterozygotes: diminished seizure threshold, abnormal hippocampal structure Homozygotes: splenomegaly, thymic atrophy, developing B-cell depletion; diminished seizure threshold, abnormal hippocampal structure, impaired spatial learning and memory	Ranheim et al. [2004], Zhao et al. [2005]
Baz1b	Heterozygotes: mild craniofacial abnormalities, low frequency of cardiac malformations Homozygotes: high frequency of neonatal lethality, growth retardation, craniofacial abnormalities. Cardiac malformations such as ASD, VSD, and aortic coarctation	Ashe et al. [2008], Yoshimura et al. [2009]
Mlxipl	Heterozygotes: no data reported Homozygotes: decreased lipogenesis, decreased ability to metabolize glucose leading to glycogen accumulation in liver	Iizuka et al. [2004]
Stx1a	Heterozygotes: no deficits in leaning and memory, anxiety or locomotor activity observed (small number of mice tested) Homozygotes: high frequency of embryonic lethality Overexpression: hyperglycemia, impaired insulin secretion and insulin tolerance Truncation mutation: impaired insulin secretion, altered synaptic plasticity	Fujiwara et al. [2006], Ohara-Imaizumi et al. [2007], McRory et al. [2008]
Eln	Heterozygotes: hypertension, decreased aortic compliance and mild cardiac hypertrophy Homozygotes: perinatal embryonic lethality due to aortic obstruction by SMC proliferation	Li et al. [1998a,b]
Limk1	Heterozygotes: no data reported Homozygotes: abnormal dendrite spine morphology, altered hipocampal function, mild deficit in spatial learning and memory	Meng et al. [2002]
Lat2	Heterozygotes: no data reported Homozygotes: abnormal T-cell activation and mast cell response resulting in an autoimmune syndrome	Volna et al. [2004], Zhu et al. [2004, 2006]
Clip2	Heterozygotes: mild growth deficiency, hippocampal dysfunction, deficits in motor coordination Homozygotes: mild growth deficiency, hippocampal dysfunction, deficits in motor coordination	Hoogenraad et al. [2002]
Gtf2ird1	Heterozygotes: mild growth deficiency, hypersociability, learning, and memory deficits Homozygotes: mild growth deficiency, craniofacial abnormalities, hypersociability, learning, and memory deficits	Tassabehji et al. [2005], Young et al. [2008], Palmer et al. [2010]
Gtf2i	Heterozygotes: no data reported Homozygotes: early embryonic lethality	Enkhmandakh et al. [2009]

ASD, atrial-septal defect; VSD, ventrical-septal defect; SMC, smooth muscle cell.