A large number of mouse mutants displaying aberrant head morphogenesis have been identified [36], but in most instances the defects result from improper induction or patterning rather than increased cell death as it is the case in PGK Cre Dbx1DTA.
JNCL patients and mouse Cln3 mutants display lipofuscin accumulation and lysosomal dysfunction.
We describe two novel mouse mutants that display a holoprosencephaly-like phenotype.
In a study on null Foxo3 mice, a mutant displaying early ovarian hyperplasia due to synchronous primordial follicle activation, 6 genes (Spin1, Slc45a3, Rspo2, Star, Trim71 and Gm196) present in our 400-genes list were postulated as fertility factors [ 30].
However, human patients and mouse mutants often do not display identical phenotypes.
The SNAP-25 deficient mouse mutant coloboma displays spontaneous hyperactivity [ 155] but lacks impulsiveness and has not been shown to have problems with sustained attention.
However, 13 months after TAM injection (15 months old mice), mutant muscles displayed signs of atrophy.
vldlr −/− and lrp8 −/− single mutant mice display no defects, while double mutant mice show more severe phenotype than reln −/− null mutant (See above), providing evidence for compensatory functions between the two receptors.
Through a forward genetic screen in mice, we identified a mutation in which heterozygous mutant mice display muscle weakness.
Interestingly, Npas2 deficient mice [41] as well as Clock mutant mice display a behavior profile similar to the manic state in bipolar disorder [42].
