Phenotypes Associated with This Genotype

Genotype
MGI:6370045

• Allelic Composition: Bbs4^Gt1Nk/Bbs4^Gt1Nk
• Genetic Background: B6.129S7-Bbs4^Gt1Nk

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

behavior/neurological

impaired contextual conditioning behavior ( J:279506 )

♀ • 8 week old females, but not males, show a decrease in the percentage of freezing and an increase in the distance traveled on day 2 after introduction of the paired tone-foot shock stimulus in the contextual fear experiment indicating a reduction in contextual fear memory in females

impaired cued conditioning behavior ( J:279506 )

♂ • 8 week old males, but not females, show a reduction in the percentage of freezing and increased distance traveled during the cued conditioning session with the tone, indicating impaired cued fear memory in males

cellular

enhanced autophagy ( J:279506 )

• marker analysis indicates an increase in autophagy in P1 and P7 brains

• however, no differences in oxidative phosphorylation complex activities are seen indicating tht mitochondrial dysfunction is not a cause of autophagy

homeostasis/metabolism

enhanced autophagy ( J:279506 )

• marker analysis indicates an increase in autophagy in P1 and P7 brains

• however, no differences in oxidative phosphorylation complex activities are seen indicating tht mitochondrial dysfunction is not a cause of autophagy

nervous system

decreased dendritic spine density ( J:279506 )

• progressive decrease in dendritic spine density at P21 and P42, but not at late embryonic stages

• total spine density is reduced by 55% in dentate gyrus granule cells at P42

• total spine density on the basal and apical dendrites of layer V pyramidal neurons is reduced by 55% and 54%, respectively at P42

• total basal and apical spine density of basolateral amygdala neurons is reduced by 23% and 22%, respectively at P42

• total spine count of dentate gyrus neurons is reduced in all spine subtypes except branched spines, however only the density of thin spines is reduced (22%) when the reduction of dendritic length is taken in account

decreased dendritic spine length ( J:279506 )

• reduction in dendritic spine length at E19.5, P21, and P42

• total dendritic length is reduced by 48% in dentate gyrus neurons and by 25% in basal dendrites of layer V cortex neurons at P42

• basolateral amygdala neuron apical and basal dendrites show a length reduction of 14% and 19%, respectively at P42

abnormal miniature excitatory postsynaptic currents ( J:279506 )

• miniature excitatory postsynaptic currents amplitude is increased in dentate gyrus neurons of 3-4 week old mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bardet-Biedl syndrome 4		DOID:0110126	OMIM:615982	J:279506