Phenotypes Associated with This Genotype

Genotype
MGI:5700364

• Allelic Composition: Tmem218^{Gt(OST40451)Lex}/Tmem218^{Gt(OST40451)Lex}
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

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

vision/eye

thin retina outer nuclear layer ( J:227399 )

• by 14 weeks of age, subtle photoreceptor loss is detectable, shown by a thinning of the outer nuclear layer

• by 4 months, a diffuse moderate thinning of the outer nuclear layer is seen in mutant homozygous mice that is pronounced by 29 weeks

• in contrast, the inner retina appears to be intact, with apparently normal inner nuclear and ganglion cell layers at all ages examined

increased susceptibility to age-related retinal degeneration ( J:227399 )

• slowly progressive retinal degeneration first detectable at 9 weeks of age

abnormal electroretinogram waveform feature ( J:227399 )

• at 2 months of age, mutant homozygous mice show statistically significant reductions in both a-wave and b-wave ERG responses at the highest (24 cd.s/m2) of the light exposures tested but not lower intensities

• by 6 months of age, statistically significant reductions in a-wave ERG responses at all 3 light intensities tested (0.006, 0.04, and 24 cd.s/m2) is seen, as well as reductions in b-wave responses, although these differences were statistically significant only at the highest of the light exposures (24 cd.s/m2)

abnormal vision ( J:227399 )

• progressive loss of vision in mutant homozygous mice

renal/urinary system

kidney cyst ( J:227399 )

• mutant homozygous mice have variable numbers of cysts at all ages examined, but the kidneys were generally of normal or slightly reduced size compared to wild-type mice

• evaluation of kidney sections taken at various time points show that cortex, inner medulla, and outer medulla become progressively cystic and atrophic

kidney cortex cyst ( J:227399 )

• some mice display sporadic or scattered cysts in the cortex

renal interstitial fibrosis ( J:227399 )

abnormal renal tubule morphology ( J:227399 )

• mutant mice show tubulointerstitial inflammatory cell infiltrates with interstitial fibrosis and disruption, thickening, and splitting of tubular basement membranes

renal tubule atrophy ( J:227399 )

cardiovascular system

increased systemic arterial systolic blood pressure ( J:227399 )

• at 14 weeks, mutant homozygous mice also show a trend toward higher systolic blood pressure, which is more pronounced in males and correlated with serum creatinine

growth/size/body

decreased body weight ( J:227399 )

• lower than normal body weight at 19 weeks of age

kidney cyst ( J:227399 )

• mutant homozygous mice have variable numbers of cysts at all ages examined, but the kidneys were generally of normal or slightly reduced size compared to wild-type mice

• evaluation of kidney sections taken at various time points show that cortex, inner medulla, and outer medulla become progressively cystic and atrophic

kidney cortex cyst ( J:227399 )

• some mice display sporadic or scattered cysts in the cortex

homeostasis/metabolism

increased circulating creatinine level ( J:227399 )

• at 17 weeks, mutant homozygous mice show trends toward higher serum creatinine

increased blood urea nitrogen level ( J:227399 )

• at 17 weeks, mutant homozygous mice show trends toward higher blood urea nitrogen

increased circulating calcium level ( J:227399 )

• at 17 weeks, modest but significant increases in serum calcium

increased circulating alkaline phosphatase level ( J:227399 )

• at 17 weeks, modest but significant increases in alkaline phosphatase

increased circulating chloride level ( J:227399 )

• at 17 weeks, modest but significant increases in serum chloride

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Senior-Loken syndrome		DOID:0050576	OMIM:266900 OMIM:606995 OMIM:606996 OMIM:609254 OMIM:610189 OMIM:613615 OMIM:PS266900	J:227399