Almost all bones of the mutant mice, including the calvariae, vertebrae, tibiae, femurs, ribs, limbs and sternums were defective.
Importantly, in humans, hypoplasia of several brainstem nuclei affected in our ATF2 mutant mice, including the inferior olivary nuclei, the facial, the dorsal vagal and the hypoglossal nuclei have been reported in cases of intrauterine or neonatal sudden death as well as in sudden infant death syndrome [35].
These mice display other features found in BRCA2 mutant mice, including germ-cell defects, small size, and perinatal lethality [ 11].
The general appearance of motor neurons was examined by conventional staining methods used in analysis of SOD1 mutant mice, including hematoxylin/eosin and cresyl violet staining.
Previous studies have established that intestinal tumours from Apc mutant mice, including adenocarcinomas, do not harbour K- ras activating mutations [ 20, 26, 27].
Our data obtained from the TLR13 knockout macrophages show that TLR13 is essential for cytokine induction by the bacterial 23S rRNA, a phenotype that has not been observed with other TLR mutant mice, including those lacking TLR2, 4, 7 or 11.
Additional features of mutant mice include deficits in rotorod performance, aberrant pain responses, and abnormal myelin sheath folding.
These mutant mice included the PC-Δγ2 mice, in which the γ2 subunit of the GABAA receptor is specifically removed from the PCs using the L7-Cre-lox system16, and the GC-ΔKCC2 mice, in which the co-transporter KCC2 is knocked out of GCs using the A6-Cre-lox system20.
Another phenotype of the mutant mice includes eye malformation (Xuan et al., 1995; Pratt et al., 2004).
Symptoms in the heterozygous mutant mice include hyperglycaemia, hypoinsulinaemia, polydipsia and polyuria, beginning at around 3 4 weeks of age.
Neurological dysfunction is also apparent in Rab18-mutant mice, including progressive weakness of the hind limbs.
