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Dnah11b2b1289Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Dnah11b2b1289Clo
Name: dynein, axonemal, heavy chain 11; Bench to Bassinet Program (B2B/CVDC) mutation 1289, Cecilia Lo
MGI ID: MGI:5437083
Synonyms: Dnahc11c.A5632G, Ghost
Gene: Dnah11  Location: Chr12:117841717-118162778 bp, - strand  Genetic Position: Chr12, 63.25 cM
Mutant 1289-003-NA shows levocardia, right aortic arch and ambiguous lung lobation

Show the 14 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is an A to G substitution at coding nucleotide position 5632 in exon 33 of the cDNA (c.5632A>G, NM_010060). This changes the threonine residue to alanine at position 1878 of the encoded protein (p.T1878A). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnah11b2b1289Clo, and may be present in stocks carrying this mutation.
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 9 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Dnah11 Mutation:  138 strains or lines available
Notes
Summative Diagnosis:
Cardiovascular phenotype: Congenital heart defects associated with heterotaxy such as vascular sling with isolated left subclavian artery, right aortic arch (RAA), muscular vascular septal defect (VSD), and biventricular hypertrophy
Noncardiovascular phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, midline liver, left pulmonary isomerism, polysplenia, hypoplastic spleen, and malaligned sternal vertebra. Also observed was anophthalmia/microphthalmia, and duplex, cystic, and hydronephrotic kidney with hydroureter

Phenotypic Similarity to Human Syndrome: Heterotaxy, Polysplenia syndrome (left isomerism), Primary Ciliary Dyskinesia (PCD)

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Code ID Code Description
0190 Heterotaxy Syndrome
0192 Polysplenia syndrome (left isomerism)
1300 Ventricular septal defect
1320 Ventricular septal defect, muscular
2700 Abnormal aortic arch
2720 Right aortic arch
2732 Isolation of the left subclavian artery
2760 Vascular ring
3804 Congenital heart disease
3817 Abdominal situs ambiguous (abdominal heterotaxy)
4100 Skeletal, skin, muscle anomaly
4239 Left bronchial isomerism
4502 Hydronephrosis
4508 Polycystic kidney disease
4512 Renal malformation
4864 Anophthalmia
4877 Microphthalmia
7505 Biventricular hypertrophy

References
Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-15;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/16/2021
MGI 6.17
The Jackson Laboratory