Homozygous mice carrying this ENU induced Dnah5hlb612 mutation show situs inversus totalis with structural heart defects and cardiovascular anomalies along with abnormal respiratory cilia.
The ENU generated hlb612 allele contains an in-frame deletion in a dynein gene (Dnahc5) commonly associated with human primary ciliary dyskinesia (PCD). Thirty-six percent of homozygotes exhibit situs inversus totalis and hydrocephaly and die between 2-4 weeks of age. Forty percent of homozygotes die before or shortly after birth and exhibit heterotaxy with structural heart defects and cardiovascular anomalies including discordant atrioventricular and ventricular outflow situs, atrial/pulmonary isomerisms, artery alignment defects, interrupted inferior vena cava and dextrocardia. Electronmicroscopy reveals that the outer dynein arms of the respiratory cilia are greatly reduced in number. Respiratory cilia exhibit a wide variation in orientation. Cilia in the airway epithelia are immotile or slow and dsykinetic. Heterozygous mice do not have situs defects, however, respiratory cilia exhibit some reduction in the number of outer dynein arms.This strain may be useful for studying left-right asymmetry and as a mouse model for primary ciliary dyskinesia.
This phenotypic deviant was identified following multidose ethylnitrosourea (ENU) treatments to induce mutations in male founder C57BL/6J mice (Stock No. 000664), in complex heart, lung, blood, and sleep disorders at the Mouse Heart, Lung, Blood, and Sleep Disorders (HLBS) Center at The Jackson Laboratory. G2 mice were transferred to the laboratory of Cecilia Lo at the NIH where the strain was backcrossed twice to C57BL/6J, three times to C3H/HeJ and two times to the consomic C57BL/6J-Chr 15A/J/NaJ. The mutation was determined to be a 29.7Kb deletion spanning exons 7 to 17 of the Dnahc5 gene on chromosome 15. The deletion removed 593 amino acids from a region containing most of the heavy chain dynein interacting domain N1. Two males from the colony were transferred back to The Jackson Laboratory for sperm cryopreservation in 2008.
|Allele Name||heart, lung and blood 612|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||Dnahc5del593; Mdnah5del267-859|
|Gene Symbol and Name||Dnah5, dynein, axonemal, heavy chain 5|
|Gene Synonym(s)||AU022615; CILD3; DNAHC5; Dnahc5; Dnahc5; HL1; KTGNR; Mdnah5; Mutant line 1134; Mutant line 1154; Mutant line 1537; Mutant line 1565; PCD; b2b1134Clo; b2b1134Clo; b2b1154Clo; b2b1154Clo; b2b1537Clo; b2b1537Clo; b2b1565Clo; b2b1565Clo; expressed sequence AU022615|
|Strain of Origin||C57BL/6J|
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