IMPC phenotypes (gene matching)
STOCK Dnah5hsihy/Cnbc
| Status | Available to order |
| EMMA ID | EM:05255 |
| Citation information | RRID:IMSR_EM:05255 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | STOCK Dnah5hsihy/Cnbc |
| Alternative name | SI-Dnahc5-spontaneous mutant |
| Strain type | Spontaneous |
| Allele/Transgene symbol | Dnah5hsihy |
| Gene/Transgene symbol | Dnah5 |
Information from provider
| Provider | Suzanna Frints |
| Provider affiliation | Maastricht University |
| Genetic information | While crossing a transgenic mouse Farg46 (FVB) with a GCN2 knockout mouse (129/Sv), situs inversus totalis were repeatedly seen in several offspring of the same mouse couple, indicating a new autosomal recessive trait. Backcrossing excluded both transgenes as a cause for the phenotype. This led to a new spontaneous mouse model with congenital hydrocephalus with-/-out situs inversus. Further intercrossing between carriers for 5 years (12 generations) in a 75% FVB and 25% 129/Sv background eventually lead to the identification of the prime candidate gene. Tails were sent to JAX Services (The Jackson Laboratory) for total mouse genome mapping procedure, resulting in one mutant locus on mouse chromosome 15 within intron 35 of the Dnahc5 gene. Mutation segregates with 129/Sv-SNP-rs13482497 allele. |
| Phenotypic information | Outer Dynein Arm defect; primary cilia disorder with congenital hydrocephalus with or without situs inversus/heterotaxia in affected mice. Affected systems/phenotypes include: growth, skeleton, craniofacial, brain, cardiovascular, respiratory, reproductive system. |
| Breeding history | While crossing a transgenic mouse Farg46 (FVB) with a GCN2 knockout mouse (129/Sv), situs inversus totalis were repeatedly seen in several offspring of the same mouse couple, indicating an autosomal recessive trait. Backcrossing excluded both transgenes as a cause for the phenotype. This led to a new mouse model with congenital hydrocephalus with-/-out situs inversus. Further intercrossing for 5 years (12 generations) in a 75% FVB and 25% 129/Sv background, eventually lead to the prime candidate gene. Tails were sent to Jax Services (The Jackson Laboratory) for total mouse genome mapping procedure, resulting in one SNP rs13482497 locus on mouse chromosome 15 within intron 35 of the Dnahc5 gene. |
| References | None available |
| Homozygous fertile | no |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
| Animals used for archiving | homozygous mixed males, homozygous mixed females |
| Stage of embryos | 8-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Primary ciliary dyskinesia / Orphanet_244
MGI phenotypes (gene matching)
- abnormal heart morphology / MGI
- abnormal heart development / MGI
- heart right ventricle hypertrophy / MGI
- double outlet right ventricle / MGI
- abnormal atrioventricular cushion morphology / MGI
- abnormal head morphology / MGI
- enlarged cranium / MGI
- domed cranium / MGI
- short snout / MGI
- hydronephrosis / MGI
- abnormal liver morphology / MGI
- dextrocardia / MGI
- mesocardia / MGI
- abnormal spleen morphology / MGI
- absent spleen / MGI
- abnormal gait / MGI
- abnormal cardiovascular system physiology / MGI
- postnatal growth retardation / MGI
- increased susceptibility to otitis media / MGI
- sinus inflammation / MGI
- hydroencephaly / MGI
- abnormal pancreas morphology / MGI
- respiratory distress / MGI
- abnormal hearing physiology / MGI
- postnatal lethality / MGI
- abnormal kidney morphology / MGI
- heart left ventricle hypertrophy / MGI
- micrognathia / MGI
- situs inversus / MGI
- left pulmonary isomerism / MGI
- abnormal digestive organ placement / MGI
- renal hypoplasia / MGI
- kidney cysts / MGI
- duplex kidney / MGI
- transposition of great arteries / MGI
- abnormal aortic arch morphology / MGI
- heterotaxia / MGI
- interrupted aortic arch / MGI
- right aortic arch / MGI
- right atrial isomerism / MGI
- abnormal inferior vena cava morphology / MGI
- thin cerebral cortex / MGI
- left atrial isomerism / MGI
- enlarged lateral ventricles / MGI
- abnormal midgut morphology / MGI
- ventricular septal defect / MGI
- ostium secundum atrial septal defect / MGI
- common atrium / MGI
- atrioventricular septal defect / MGI
- complete atrioventricular septal defect / MGI
- heart right ventricle hypoplasia / MGI
- abnormal heart atrium and ventricle connection / MGI
- anomalous pulmonary venous connection / MGI
- total anomalous pulmonary venous connection / MGI
- pulmonary artery hypoplasia / MGI
- vascular ring / MGI
- abnormal right subclavian artery morphology / MGI
- common atrioventricular valve / MGI
- right-sided stomach / MGI
- lung situs inversus / MGI
- abnormal respiratory motile cilium morphology / MGI
- abnormal respiratory motile cilium physiology / MGI
- lethality at weaning, complete penetrance / MGI
- perinatal lethality, incomplete penetrance / MGI
- abdominal situs inversus / MGI
- abdominal situs ambiguus / MGI
- situs inversus totalis / MGI
- situs inversus with levocardia / MGI
- superior-inferior ventricles / MGI
- biventricular, discordant atrioventricular connection / MGI
- biventricular, ambiguous atrioventricular connection / MGI
- immotile respiratory cilia / MGI
- double outlet right ventricle with atrioventricular septal defect / MGI
- dual inferior vena cava / MGI
- cerebellum atrophy / MGI