All Phenotypes Bbs10<tm1.2Vmar> MGI Mouse

decreased body weight ( J:227230 )

• homozygotes show decreased body weight at 4 to 7 weeks of age but recover equivalent body weight with wild-type controls by 8 weeks of age

increased body weight ( J:227230 )

• homozygotes gain more weight from 8 weeks onwards and are significantly heavier than wild-type controls at 11-12 weeks of age

obese ( J:227230 )

• homozygotes develop obesity by 3 months of age

polyphagia ( J:227230 )

• homozygotes develop hyperphagia from 8 weeks of age

abnormal retina apoptosis ( J:227230 )

• retinas show ongoing apoptosis of photoreceptors, as revealed by increased number of TUNEL+ nuclei

photoreceptor inner segment degeneration ( J:227230 )

• homozygotes display gradual loss of the inner segment of retinal photoreceptors

abnormal photoreceptor outer segment morphology ( J:227230 )

• a marked reduction of rhodopsin content is observed in the outer segment at 3 months of age

photoreceptor outer segment degeneration ( J:227230 )

• homozygotes display gradual loss of the outer segment of retinal photoreceptors

retina photoreceptor degeneration ( J:227230 )

• homozygotes display gradual loss of retinal photoreceptors

• however, the connecting cilium is still be detectable next to the centriole

retina outer nuclear layer degeneration ( J:227230 )

• homozygotes display gradual loss of the outer nuclear layer

decreased total retina thickness ( J:227230 )

• homozygotes exhibit retinal thinning by 3 months of age

retina degeneration ( J:227230 )

• homozygotes develop severe retinal degeneration by 3 months of age

abnormal rod electrophysiology ( J:227230 )

• at 2- and 3 months of age, scotopic electroretinogram (ERG) recordings show a significant reduction of the a-wave and b-wave magnitudes

increased urine microalbumin level ( J:227230 )

• at 3 months of age, homozygotes show a significant increase in urine microalbumin levels

• however, creatinine clearance is normal

absent podocyte foot process ( J:227230 )

• at 3 months of age, primary and secondary podocyte structures are absent

decreased renal glomerulus basement membrane thickness ( J:227230 )

• at 3 months of age, GBM thickness is substantially reduced

abnormal renal tubule epithelium morphology ( J:227230 )

• renal tubular epithelial cells contain large intracytoplasmic vacuoles, unlike wild-type cells

• however, no cystic lesions are observed and tubular epithelial cells are normally ciliated and correctly polarized

increased urine flow rate ( J:227230 )

• following 24-h fluid deprivation, homozygotes show a significant increase in urinary volume (diuresis) relative to similarly treated wild-type controls

polyuria ( J:227230 )

• homozygotes display polyuria associated with high circulating antidiuretic hormone levels

increased circulating antidiuretic hormone level ( J:227230 )

• homozygotes show a drastic increase in circulating AVP levels irrespective of fluid intake, unlike wild-type controls which exhibit a normal physiological response upon fluid restriction

increased circulating leptin level ( J:227230 )

• homozygotes show severe hyperleptinemia at 3 months with a circulating leptin level of 125 ng/mL

abnormal glucose tolerance ( J:227230 )

• at 3 months of age, homozygotes are not hyperglycemic but show a significant delay in the rate of decrease of glucose levels following a glucose tolerance test (GTT)

• however, insulin sensitivity is normal, indicating that the delay in glucose handling in GTT is not related to insulin resistance