Table 1.
Examples of neurobehavioural ENU mouse mutants (2007–)
| Mutant gene name | Mutation(s) studied | Phenotypic effects | References |
|---|---|---|---|
| Af4 | V280A/+ | Ataxia, cataracts, T cell development defects, adult-onset Purkinje cell death | (52,55,57) |
| Arcn1 | I422T/I422T | Coat colour dilution, ataxia, Purkinje cell death | (128) |
| Atp1α3 | I810N/+ | Small size, seizures, elevated exploratory locomotion, sleep abnormalities | (85,88) |
| Cacna1a | R1255L/+ | Ataxia, cerebellar atrophy | (129) |
| Cacna1a | R1255L/R1255L | Severe ataxia, premature death | |
| Disc1 | L100P/+ | PPI, latent inhibition defects | (71) |
| Disc1 | L100P/L100P | PPI, working memory, latent inhibition defects, hyperactivity | |
| Disc1 | Q31L/+ | PPI defects | |
| Disc1 | Q31L/Q31L | PPI, working memory, latent inhibition defects, depressive-like behaviour | |
| Disc1 | Q31L/L100P | PPI defects | |
| Fbxl3 | C358S/+ | Lengthened circadian period | (102,109) |
| C358/C358 | Lengthened circadian period, reduced anxiety, depression-like behaviour | ||
| Foxp2 | R552H/+ | Normal development, defects in motor learning | (130) |
| Foxp2 | R552H/R552H | Severe motor impairment, developmental delay, cerebellar foliation defects, 3–4-week survival | |
| Foxp2 | S321X/S321X | Severe motor impairment, developmental delay, cerebellar foliation defects, 3–4-week survival | |
| Foxp2 | N549K/N549K | Late-onset cerebellar foliation defects, 3–5-month survival | |
| Foxc1 | F107L/F107L | Cortical and skull abnormalities | (131) |
| Gars | C201R/+ | Reduced grip strength, reduction in axonal diameter | (63) |
| Gars | C201R/C201R | Neurodeveopmental delay, 3-week survival | |
| Grin1 | C844R/+ | Hyperactivity, increased novelty seeking | (132) |
| Npc1 | D1005G/+ | Abnormal cholesterol metabolism, Purkinje cell loss, late-onset ataxia | (126) |
| ROR-alpha | C257X/C257X | Ataxia, severe cerebellar atrophy | (133) |
| Rtn4 | R189H/R189H | Greater social preference, subtle cognitive defects | (134) |
| Snap-25b | I67T/+ | Subtle ataxia, PPI defects, advanced circadian phase | (76,106) |
| Trpc3 | T635A/+ | Ataxia, late-onset Purkinje cell death | (59) |
| Jenna / Tuba1a | S140G/+ | Hyperactivity, increased acoustic startle, neuronal migration defects | (135–137) |
| Tuba1a | D85G/+ | Hyperactivity, neuronal migration defects | (138) |