A 16.7 kb deletion in Sipa1l3 is associated with juvenile cataract in mice.

Congenital or juvenile cataract is a disease condition in which opacification of the lenses is present at birth or manifests early in life. It has been attributed to different monogenic factors with a high degree of heterogeneity and is often studied using mouse models. A spontaneous mutation was identified in a mouse line selected for heat loss that influenced lens formation and resulted in juvenile cataracts in mice homozygous for the recessive allele.

Quantitative trait loci for energy balance traits in an advanced intercross line derived from mice divergently selected for heat loss.

Obesity in human populations, currently a serious health concern, is considered to be the consequence of an energy imbalance in which more energy in calories is consumed than is expended. We used interval mapping techniques to investigate the genetic basis of a number of energy balance traits in an F11 advanced intercross population of mice created from an original intercross of lines selected for increased and decreased heat loss. We uncovered a total of 137 quantitative trait loci (QTLs) for these traits at 41 unique sites on 18 of the 20 chromosomes in the mouse genome, with X-linked QTLs being most prevalent.

A polymorphic glucocorticoid receptor in a mouse population may explain inherited altered stress response and increased anxiety-type behaviors.

A polymorphic glucocorticoid receptor (GR(Qn)) with an expanded CAG track and two silent mutations, when compared with the sequence of other isoform (GR(wt)), is found in two outbred mouse lines that were produced by selection for high (SH) or low (SL) stress response from high or low heat loss lines of mice, respectively. The GR(Qn) allele, which is also found in 5 of 16 commonly used inbred mouse lines, had a much higher frequency in SL mice; the GR(wt/wt) was found only in the SH line. Both GR(Qn/Qn) and GR(wt/Qn) mice had a much weaker corticosterone response to stress than the GR(wt/wt) mice.

Genetic variance and covariance patterns for body weight and energy balance characters in an advanced intercross population of mice.

We estimated heritabilities and genetic correlations for a suite of 15 characters in five functional groups in an advanced intercross population of over 2000 mice derived from a cross of inbred lines selected for high and low heat loss. Heritabilities averaged 0.56 for three body weights, 0.

Evaluation of hypothalamic gene expression in mice divergently selected for heat loss.

Mouse lines divergently selected for heat loss were evaluated for correlated responses in the hypothalamic transcriptome. High (MH) heat loss mice have approximately 50% greater heat loss, approximately 35% less body fat, approximately 20% greater feed intake, approximately 100% greater locomotor activity levels, and higher core body temperature compared with low (ML) heat loss mice. We evaluated hypothalamic expression between inbred lines derived from MH and ML lines (IH and IL, respectively) using cDNA microarrays and selected genes previously isolated in a large differential-display PCR experiment.