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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
2410089E03Rikb2b012Clo
Bench to Bassinet Program (B2B/CVDC), mutation 012 Cecilia Lo
MGI:5297398
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
2410089E03Rikb2b012Clo/2410089E03Rikb2b012Clo C57BL/6J-2410089E03Rikb2b012Clo MGI:5309129


Genotype
MGI:5309129
hm1
Allelic
Composition
2410089E03Rikb2b012Clo/2410089E03Rikb2b012Clo
Genetic
Background
C57BL/6J-2410089E03Rikb2b012Clo
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
2410089E03Rikb2b012Clo mutation (1 available); any 2410089E03Rik mutation (56 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Mutant 012-029-NB has RAA, DORV, and pulmonary stenosis

cardiovascular system
• in a third of mice
• in most mice (J:223340)
• in a third of mice
• in most mice
• atresia/stenosis in half of mice (J:223340)

cellular
• reduced primary cilia in the cerebellum
• reduced ciliation in mouse embryonic fibroblasts
• fewer and shorter cilia than in wild-type mice

craniofacial
• with abnormal branching pattern
• with bilateral clefting in some mice (J:223340)
• shape and position

embryo

digestive/alimentary system
• with bilateral clefting in some mice (J:223340)
• shape and position
• intestinal atresia where only a short segment of the small intestine forms in some mice
• in some mice

hearing/vestibular/ear
N
• mice exhibit normal stereocilia in the cochlea

limbs/digits/tail
• in some mice

homeostasis/metabolism
• severe
• in a wound scratch assay, mouse embryonic fibroblasts exhibit randomized cell orientation without alignment with the direction of the would closure unlike wild-type mice

mortality/aging

renal/urinary system
• fewer and shorter cilia than in wild-type mice
• in the nephrons
• numerous small cysts (J:223340)

nervous system
• with reduced number of fissures

respiratory system
• with abnormal branching pattern
• in mice with milder phenotypes (J:223340)

skeleton
• with abnormal branching pattern
• absent in some mice
• sternal bone malalignment
• in half of mice
• unfused in some mice

growth/size/body
• with abnormal branching pattern
• with bilateral clefting in some mice (J:223340)
• shape and position

Mouse Models of Human Disease
OMIM ID Ref(s)
Joubert Syndrome 17; JBTS17 614615 J:223340





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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory