Phenotypes Associated with This Genotype

Genotype
MGI:3525001

• Allelic Composition: Bbs4^tm1Vcs/Bbs4^tm1Vcs
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

decreased aggression ( J:94467 )

• mutants are more submissive towards other mice compared to wild-type controls

hyporesponsive to tactile stimuli ( J:94467 )

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

abnormal placing response ( J:94467 )

• when lowered towards a wire grid females show less forelimb paddling

decreased grip strength ( J:94467 )

• mutants are unable to grip a wire grid with the hindlimbs when lifted by the tail

endocrine/exocrine glands

decreased salivation ( J:94467 )

• no salivation is seen when mutants bite on a dowel

taste/olfaction

abnormal olfaction ( J:94467 )

• mutants are less able to find hidden food

nervous system

enlarged lateral ventricles ( J:128532 )

• enlarged at 3.5- to 6-months of age

enlarged third ventricle ( J:128532 )

• enlarged at 3.5- to 6-months of age

abnormal basal ganglion morphology ( J:128532 )

• reduction in size of the corpus striatum at 3-weeks and 3.5- to 6-months of age

small hippocampus ( J:128532 )

• reduced in size at 3.5- to 6-months of age

thin cerebral cortex ( J:128532 )

• thinning of the caudal half detected at 3.5- to 6-months of age

digestive/alimentary system

decreased salivation ( J:94467 )

• no salivation is seen when mutants bite on a dowel

renal/urinary system

abnormal renal tubule epithelial cell primary cilium morphology ( J:137093 )

• at 3-4 months of age, the average length of mutant renal tubule primary cilia is significantly increased relative to that in wild-type kidneys

• in culture, wild-type renal tubule epithelial cells of mostly of collecting duct origin maintain a constant ciliary length between days 7 and 10, whereas mutant cilia display an initial delay but surpass the length of wild-type cilia by 10 days

• however, no differences in the cellular composition or proportion of cultured ciliated cells are observed

• the microtubule ultrastructure of basal bodies and axonemes of mutant renal tubule primary cilia remains normal

cellular

abnormal renal tubule epithelial cell primary cilium morphology ( J:137093 )

• at 3-4 months of age, the average length of mutant renal tubule primary cilia is significantly increased relative to that in wild-type kidneys

• in culture, wild-type renal tubule epithelial cells of mostly of collecting duct origin maintain a constant ciliary length between days 7 and 10, whereas mutant cilia display an initial delay but surpass the length of wild-type cilia by 10 days

• however, no differences in the cellular composition or proportion of cultured ciliated cells are observed

• the microtubule ultrastructure of basal bodies and axonemes of mutant renal tubule primary cilia remains normal

homeostasis/metabolism

decreased salivation ( J:94467 )

• no salivation is seen when mutants bite on a dowel

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bardet-Biedl syndrome 4		DOID:0110126	OMIM:615982	J:94467