These mice carry a spontaneous mutation at the Vac14 locus characterized by small size and prevalent hydrocephalus. They are suitable for use in applications related to the study of the phosphoinositide phosphate regulatory complex and neuron development in the mammalian nervous system.Read More +
Mice homozygous for the recessive Vac14ingls mutation are significantly smaller than their littermates, and their coat color is dilute with white underfur both dorsally and ventrally (Sweet 1991; Samples 2003). Most develop hydrocephalus with onset by one week of age. Homozygotes are weak and uncoordinated and have difficulty righting themselves. They fail to gain weight during the second week of life, and most die by three weeks of age. (Bronson et al. 2003) Length of survival appears to correlate with the severity of hydrocephalus, which varies from absent to severe; however, all homozygotes die by four weeks, whether or not they are hydrocephalic (Samples et al. 2003).
Hydrocephalus affects the lateral ventricles most severely; serial sections reveal an intact cerebral aqueduct. Diffuse astrocytic hypertrophy and hyperplasia are observed in brains and spinal cords of mutant mice. A few mutants develop status spongiosis, and a few exhibit gliosis alone. Astrocytes cultured from affected mice stop dividing within three weeks, but survive for up to 12 weeks. They do not develop into tumors when implanted into the brains of normal mice. (Bronson et al. 2003)
ingls arose spontaneously in a breeding colony of the inbred strain DBA/2J at The Jackson Laboratory in 1991. It has been backcrossed onto C57BL/6J and is maintained by crossing hosts of homozygous ovarian transplants to C57BL/6J males, then intercrossing the resultant obligate heterozygotes. In October 2003 this strain had reached generation N19F1.
|Allele Name||infantile gliosis|
|Allele Type||Spontaneous (Hypomorph)|
|Allele Synonym(s)||ingls; Vac14L156R|
|Gene Symbol and Name||Vac14, Vac14 homolog (S. cerevisiae)|
|Strain of Origin||DBA/2J|
|General Note||This spontaneous mutation arose in 1991 at The Jackson Laboratory.|
|Molecular Note||Exon 4 contains a T-to-C transition at position 467 (c.467T>G) that results in an amino acid substitution of leucine with arginine at position 156 (p.L156R). This allele is hypomorphic.|