Phenotypes associated with this allele

• Allele Symbol: Bbs2^tm1Vcs
• Allele Name: targeted mutation 1, Val C Sheffield
• Allele ID: MGI:3521669
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Bbs2^tm1Vcs/Bbs2^tm1Vcs	either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)	MGI:3524999
hm2	Bbs2^tm1Vcs/Bbs2^tm1Vcs	involves: 129S1/Sv * 129X1/SvJ	MGI:3767680
cx3	Bbs2^tm1Vcs/Bbs2^+ Bbs4^tm1Vcs/Bbs4^+	either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)	MGI:3525000

Genotype
MGI:3524999

hm1

• Allelic Composition: Bbs2^tm1Vcs/Bbs2^tm1Vcs
• Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)

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

Retinal comparison of wild type and Bbs2^tm1Vcs/Bbs2^tm1Vcs mice

adipose tissue

abnormal abdominal fat pad morphology ( J:94467 )

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

behavior/neurological

polyphagia ( J:94467 )

decreased aggression ( J:94467 )

• mutants are more docile during handling and 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

decreased startle reflex ( J:94467 )

• mutants have a reduced acoustic startle response

abnormal placing response ( J:94467 )

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

endocrine/exocrine glands

decreased salivation ( J:94467 )

• decreased salivation is seen when mutants bite on a dowel

growth/size/body

decreased birth body size ( J:94467 )

• homozygotes are smaller at birth

increased body mass index ( J:94467 )

• by 4 months body weight and BMI are significantly greater in homozygous females compared to wild-type mice

increased body weight ( J:94467 )

• by 5 months body weight is significantly greater in homozygous males compared to wild-type mice

kidney cyst ( J:94467 )

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

decreased body size ( J:94467 )

• homozygotes are smaller at weaning

limbs/digits/tail

limbs/digits/tail phenotype ( J:94467 )

N • no polydactyly or other obvious limb malformations are seen

liver/biliary system

hepatic steatosis ( J:94467 )

• lipid accumulation is seen

• however, no cysts are found

renal/urinary system

kidney cyst ( J:94467 )

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

reproductive system

absent sperm flagellum ( J:94467 )

♂ • sperm lack flagella

male infertility ( J:94467 )

♂

taste/olfaction

abnormal olfaction ( J:94467 )

• mutants are less able to find hidden food

vision/eye

disorganized photoreceptor outer segment ( J:94467 )

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

increased susceptibility to age-related retinal degeneration ( J:94467 )

• retina degeneration seen at 6-8 weeks of age with complete loss of the outer nuclear layer by 10 months of age

abnormal eye electrophysiology ( J:94467 )

• 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

disorganized photoreceptor outer segment ( J:94467 )

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

digestive/alimentary system

decreased salivation ( J:94467 )

• decreased salivation is seen when mutants bite on a dowel

cellular

absent sperm flagellum ( J:94467 )

♂ • sperm lack flagella

homeostasis/metabolism

decreased salivation ( J:94467 )

• 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

Genotype
MGI:3767680

hm2

• Allelic Composition: Bbs2^tm1Vcs/Bbs2^tm1Vcs
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

Genotype
MGI:3525000

cx3

• Allelic Composition: Bbs2^tm1Vcs/Bbs2⁺; Bbs4^tm1Vcs/Bbs4⁺
• Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)

normal phenotype

no abnormal phenotype detected ( J:94467 )

• double heterozygotes are normal with respect to body weight, BMI, eye electrophysiology, retinal histology, limb development, and fertility