Hydcs1^MSM/Ms
QTL Variant Detail

Summary

• QTL variant: Hydcs1^MSM/Ms
• Name: hydrocephalus susceptibility 1; MSM/Ms
• MGI ID: MGI:3817975
• QTL: Hydcs1 Location: unknown Genetic Position: Chr17, Syntenic

Variant origin

• Strain of Specimen: MSM/Ms

Variant description

• Allele Type: QTL
• Mutation: Undefined
• Mutation details: This allele confers increased incidence of hydrocephalus and enlarged brain ventricle size compared to C57BL/6J. (J:139215)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Notes

Hydcs1 was identified in male animals.

Mapping and Phenotype information for this QTL, its variants and associated markers

J:139215

Mouse chromosome substitution strains (CSSs) carrying MSM/Ms-derived chromosomes on a C57BL/6J genetic background were evaluated for susceptibility to hydrocephalus. Neither parental strain displays a high incidence of hydrocephalus (C57BL/6J=0.06%; MSM/Ms=0.0%). However, CSSs for chromosomes 4, 5, 7, 11, 15 and 17 displayed higher than average incidence of hydrocephalus (1-10%). CSS 5 and 17 had the highest hydrocephalus incidence at >5%. The chromosome 14 substitution strain displayed suggestive linkage to hydrocephalus.

The chromosome 17 CSS (C57BL/6J-Chr17) was chosen for further analysis. Affected males from this line display severely enlarged brain ventricles, however overall brain size did not differ from C57BL/6J. Non-hydrocephalic males from CSS 17 displayed 2-fold increase in ventricle size compared to C57BL/6J males suggesting the trait displays a high degree of variance.

C57BL/6J-Chr17 was backcrossed to C57BL/6J to create sub-consomic lines. The subconsomic line B6.MSM-(D17Mit58-D17Mit168) carries MSM/Ms-derived DNA from 8.15 cM (10.48 Mb) to 22.3 cM (43.7 Mb) and displays 3.1% incidence of hydrocephalus which is significantly higher than all other subconsomic lines. Non-hydrocephalic males from this line also displayed enlargedventricle size compared to C57BL/6J males.

By comparison with other subconsomic lines, the trait for enlarged ventricle size was localized to a region between D17NigC101 (20.5 Mb) and D17Mit34 (34.4 Mb). This locus is designated Hydcs1 (hydrocephalus susceptibility 1). At the present time no candidate genes have been proposed. The proximal portion of chromosome 17 between the centromere and D17Mit81 (30.63 Mb) may possibly contain a second locus associated with ventricle size.

References

• Original: J:139215 Takahashi A, et al., Multigenic factors associated with a hydrocephalus-like phenotype found in inter-subspecific consomic mouse strains. Mamm Genome. 2008 May;19(5):333-8
• All: 1 reference(s)