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. 2009 Oct 15;18(R2):R146–R155. doi: 10.1093/hmg/ddp412

Table 2.

Mouse models of human disease with thermo/mechanosensory defects

Gene Phenotype Disease model Reference
Apoe Abnormal thermal nociception Alzheimer disease (AD; OMIM ID 104300) (100)
Clcn6 Increased thermal threshold Ceroid lipofuscinosis, neuronal, 3 (CLN3; OMIM ID 204200) (101)
Ctsc Increased thermal threshold Schizophrenia (SCZD; OMIM ID 181500) (102)
Ndn Decreased thermal threshold Prader–Willi syndrome (PWS; OMIM ID 176270) (44)
Ntrk1 Increased thermal threshold; unresponsive to tactile stimuli Insensitivity to pain, congenital, with anhidrosis (CIPA; OMIM ID 256800) (103)
Prx Decreased thermal threshold; Hyporesponsive to tactile stimuli Hypertrophic neuropathy of Dejerine–Sottas (OMIM ID 145900) (104)
Bbs2 Hyporesponsive to tactile stimuli Bardet–Biedl syndrome (BBS; OMIM ID 209900) (105)
Bbs4 Hyporesponsive to tactile stimuli Bardet–Biedl syndrome (BBS; OMIM ID 209900) (18)
Kif1b Unresponsive to tactile stimuli Charcot–Marie–Tooth disease, axonal, type 2a1 (CMT2A1; OMIM ID 118210) (106)
Trpv4 Abnormal response to tactile stimuli Deafness, autosomal dominant nonsyndromic sensorineural 25 (DFNA25; OMIM ID 605583) (102,107)