FIGURE

Fig. 1

ID

ZDB-FIG-200814-10

Publication

Asselin et al., 2020 - Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

Other Figures

All Figure Page

Back to All Figure Page

Fig. 1

Patients with <italic>KIF21B</italic> variants.

a–d Pedigrees of patients with identified KIF21B variants. e–g Sagittal brain section of patient’s MRI showing a complete agenesis of the corpus callosum in patient 1 (e, red arrow) and microcephaly in patient 2 (f). h Schematic representation of the human KIF21B (hKIF21B) protein indicating the different domains (motor domain, ATP binding site, coiled-coil domain (CC) 1 and 2, regulatory coiled-coil domain (rCC) and WD40 domain) and the position of the mutated amino acids for patient 1 (p.Ile678Leu), 2 (p.Gln313Lys), 3 (p.Ala1001Thr) and 4 (p.Asn988SerfsX4). T96N substitution that abolishes KIF21B mobility is also depicted.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Nat. Commun.