The corresponding region in human AMBN is deleted in the human AMBN−6/−6 mutation reported here and in the Ambn−5,6/−5,6 mouse mutant previously reported.
In human cell lines, H4 was hyperacetylated preferentially at K16 [ 10], while in mouse mutant tissues hyperacetylation was reported specifically at H3K9 [ 10, 13].
However, analysis of a Nrarp null mutant mouse reported vascular patterning defects in the retina (Phng et al., 2009) and normal progression of the segmentation clock (Wright et al., 2009).
We note that another Mks1 mouse mutant, kerouac (krc), was recently reported that probably carries a null mutation with complete loss of Mks1 function (Weatherbee et al., 2009).
These studies also reported animals (mouse mutant M100888) with an X-linked enamel phenotype immediately suggesting mutations in the amelogenin gene (Amelx) as this is the only enamel matrix protein currently identified on the X-chromosome.
Mice expressing a truncated ameloblastin (lacking exons 5 and 6), share similar histopathological features to the Y64H amelogenin mutant mice reported here (8, 31).
All class II/III PI3K mutant mice reported to date were created by gene targeting approaches that remove the protein of interest but do not allow the discrimination between scaffold- and kinase-dependent functions of these enzymes (Vanhaesebroeck et al., 2005).
Here, we report a mouse mutant in which the piggyBac (PB) transposon is inserted into the Lmod3 gene and disrupts its expression.
Recently, a catalytically inactive IRAK1 D359A mutant mouse was reported (Pauls et al, 2013).
We also report that the mouse mutant ingls (infantile glio sis) results from a missense mutation in Vac14 that prevents the association of Vac14 with Fab1, generating a partial complex.
