Phenotypes Associated with This Genotype

Genotype
MGI:3045547

• Allelic Composition: Bbs4^tm1Vcs/Bbs4^tm1Vcs
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

Examination of wild-type and Bbs4^tm1Vcs/Bbs4^tm1Vcs mouse retina

mortality/aging

preweaning lethality, incomplete penetrance ( J:90812 )

• litters contain fewer than expected homozygous mutants

adipose tissue

increased total body fat amount ( J:90812 )

• increased weight gain is associated with an increase in centrally deposited adipose tissue

behavior/neurological

polyphagia ( J:90812 )

• post weaning weight gain is associated with a greater food intake in homozygous mutants compared to wild-type littermates

growth/size/body

decreased birth body size ( J:90812 )

• homozygous mutants are smaller than wild-type mice at birth

decreased body weight ( J:90812 )

• at 3 weeks of age homozygous mutants weigh less than their wild-type littermates

obese ( J:90812 )

• after weaning homozygous mutants gain more weight and become obese

reproductive system

absent sperm flagellum ( J:90812 )

♂ • flagella are absent throughout the seminiferous tubules, even on cells with condensed sperm heads

male infertility ( J:90812 )

♂ • homozygous males fail to sire offspring

vision/eye

increased susceptibility to age-related retinal degeneration ( J:90812 )

• progressive retinal degeneration and increased apoptosis are seen by 6 weeks of age

• by 7 months photoreceptor cells are absent

cellular

absent sperm flagellum ( J:90812 )

♂ • flagella are absent throughout the seminiferous tubules, even on cells with condensed sperm heads

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bardet-Biedl syndrome 4		DOID:0110126	OMIM:615982	J:90812