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Phenotypes Associated with This Genotype
Genotype
MGI:3524999
Allelic
Composition
Bbs2tm1Vcs/Bbs2tm1Vcs
Genetic
Background
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bbs2tm1Vcs mutation (2 available); any Bbs2 mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Retinal comparison of wild type and Bbs2tm1Vcs/Bbs2tm1Vcs mice

adipose tissue
• most of the weight gain is associated with increased abdominal fat

behavior/neurological
• mutants are more docile during handling and more submissive towards other mice compared to wild-type controls
• mutants are less sensitive to touch and are not vocal during handling
• mutants have a reduced acoustic startle response
• when lowered towards a wire grid females show less forelimb paddling

endocrine/exocrine glands
• decreased salivation is seen when mutants bite on a dowel

growth/size/body
• homozygotes are smaller at birth
• by 4 months body weight and BMI are significantly greater in homozygous females compared to wild-type mice
• by 5 months body weight is significantly greater in homozygous males compared to wild-type mice
• homozygotes are smaller at weaning

limbs/digits/tail
N
• no polydactyly or other obvious limb malformations are seen

liver/biliary system
• lipid accumulation is seen
• however, no cysts are found

renal/urinary system
• 2 out of 3 mutants had bilateral multicystic kidneys with cysts found in the urinary space surrounding the glomeruli

reproductive system
• sperm lack flagella

taste/olfaction
• mutants are less able to find hidden food

vision/eye
• the photoreceptor outer segments are highly disorganized at 5 months of age
• seen at 6-8 weeks of age with complete loss of the outer nuclear layer by 10 months of age
• electroretinography indicates a decrease in photoreceptor function by 10 weeks of age when the outer nuclear layer is reduced but still present and absence of photoreceptor function by 5 months of age

nervous system
• the photoreceptor outer segments are highly disorganized at 5 months of age

digestive/alimentary system
• decreased salivation is seen when mutants bite on a dowel

integument
• mutants are less sensitive to touch and are not vocal during handling

cellular
• sperm lack flagella

homeostasis/metabolism
• decreased salivation is seen when mutants bite on a dowel

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Bardet-Biedl syndrome 2 DOID:0110124 OMIM:615981
J:94467


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
11/26/2019
MGI 6.14
The Jackson Laboratory