Phenotypes associated with this allele

• Allele Symbol: Ttc8^tm1Reed
• Allele Name: targeted mutation 1, Randall R Reed
• Allele ID: MGI:5140723
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ttc8^tm1Reed/Ttc8^tm1Reed	involves: 129	MGI:5140726
cx2	Or8a1b^tm4Mom/Or8a1b^+ Ttc8^tm1Reed/Ttc8^tm1Reed	involves: 129 * 129P2/OlaHsd * C57BL/6	MGI:5140727
cx3	Or10a4^tm1Mom/Or10a4^+ Ttc8^tm1Reed/Ttc8^tm1Reed	involves: 129 * 129P2/OlaHsd * C57BL/6	MGI:5140728

Genotype
MGI:5140726

hm1

• 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

Genotype
MGI:5140727

cx2

• Allelic Composition: Or8a1b^tm4Mom/Or8a1b⁺; Ttc8^tm1Reed/Ttc8^tm1Reed
• Genetic Background: involves: 129 * 129P2/OlaHsd * C57BL/6

Olfactory sensory neurons axon targeting is perturbed in Ttc8^tm1Reed/Ttc8^tm1Reed Or8a1b^tm4Mom/Or8a1b⁺ mice

nervous system

abnormal axon fasciculation ( J:173465 )

• impaired fasiculation of olfactory sensory neuron axons

abnormal axon guidance ( J:173465 )

• unlike in controls where all labeled axons converge to a single, posterior glomerulus, multiple glomeruli are innervated by olfactory sensory neuron axons and individual "wandering" fibers are observed

cellular

abnormal axon fasciculation ( J:173465 )

• impaired fasiculation of olfactory sensory neuron axons

abnormal axon guidance ( J:173465 )

• unlike in controls where all labeled axons converge to a single, posterior glomerulus, multiple glomeruli are innervated by olfactory sensory neuron axons and individual "wandering" fibers are observed

Genotype
MGI:5140728

cx3

• Allelic Composition: Or10a4^tm1Mom/Or10a4⁺; Ttc8^tm1Reed/Ttc8^tm1Reed
• Genetic Background: involves: 129 * 129P2/OlaHsd * C57BL/6

Impaired glomerular formation in Ttc8^tm1Reed/Ttc8^tm1Reed Or10a4^tm1Mom/Or10a4⁺ neonatal pups

nervous system

abnormal axon guidance ( J:173465 )

• abnormal targeting of labeled olfactory sensory neuron axons is observed at P0

cellular

abnormal axon guidance ( J:173465 )

• abnormal targeting of labeled olfactory sensory neuron axons is observed at P0