Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2019 Jul 23;116(32):16062–16067. doi: 10.1073/pnas.1906774116

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

Published under the PNAS license.

PMC Copyright notice

Fig. 4. — Identification of the Cacna1a gene mutation in the Drowsy pedigree showing a heritable but weak sleep phenotype. (A) Wake time distribution of retrospectively genotyped Drowsy N2 littermates. Cacna1a^+/+ (blue) and Cacna1a^m/+ (red) mice. (B) QTL analysis of the Drowsy pedigree for total wake time (n = 81). (Inset) LOD score peak between rs13479672 and rs33601490 on chromosome 8. (C) Mutational analysis of affected mice (bottom 20% in total wake time) and unaffected mice (top 20% in total wake time) within the Drowsy pedigree. (D) Structure of the CACNA1A protein indicating the F102L mutation (this study; pink), together with examples of human missense mutations reported in familial hemiplegic migraine (yellow) and episodic ataxia type2 (green), as well as the polyglutamine repeat found in spinocerebellar ataxia type 6 (Gln).