Phenotypes Associated with This Genotype

Genotype
MGI:5140726

• Allelic Composition: Ttc8^tm1Reed/Ttc8^tm1Reed
• Genetic Background: involves: 129

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

Structural and protein localization defects in Ttc8^tm1Reed/Ttc8^tm1Reed olfactory epithelium

cellular

abnormal olfactory epithelium cilium morphology ( J:173465 )

• dramatic loss of cilia with only scattered cilia seen above a surface of sustentacular cell microvilli

mortality/aging

postnatal lethality, incomplete penetrance ( J:173465 )

• frequently die before weaning

• reduction of litter size and use of supplemental food and water improves survival

growth/size/body

abnormal olfactory epithelium cilium morphology ( J:173465 )

• dramatic loss of cilia with only scattered cilia seen above a surface of sustentacular cell microvilli

obese ( J:173465 )

• become obese with age

• effect is more pronounced in females

decreased body size ( J:173465 )

• by P3

slow postnatal weight gain ( J:173465 )

• detectable by P3

• however, by P70 body weights are similar to littermate controls

renal/urinary system

dilated renal tubule ( J:173465 )

• mild dilation of tubules in the deep cortex

taste/olfaction

abnormal olfactory epithelium cilium morphology ( J:173465 )

• dramatic loss of cilia with only scattered cilia seen above a surface of sustentacular cell microvilli

impaired olfaction ( J:173465 )

• fivefold reduction in odorant-evoked activity in an electro-olfactogram assay compared to littermate controls for multiple odorants

vision/eye

abnormal photoreceptor inner segment morphology ( J:173465 )

• rhodopsin is mislocalized

retina degeneration ( J:173465 )

respiratory system

abnormal olfactory epithelium cilium morphology ( J:173465 )

• dramatic loss of cilia with only scattered cilia seen above a surface of sustentacular cell microvilli

nervous system

abnormal photoreceptor inner segment morphology ( J:173465 )

• rhodopsin is mislocalized

craniofacial

abnormal olfactory epithelium cilium morphology ( J:173465 )

• dramatic loss of cilia with only scattered cilia seen above a surface of sustentacular cell microvilli

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bardet-Biedl syndrome 8		DOID:0110130	OMIM:615985	J:173465