Phenotypes associated with this allele

• Allele Symbol: Ttll5^tm1.1N
• Allele Name: targeted mutation 1.1, National Institutes of Health
• Allele ID: MGI:5467943
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ttll5^tm1.1N/Ttll5^tm1.1N	B6.Cg-Ttll5^tm1.1N	MGI:5514262
hm2	Ttll5^tm1.1N/Ttll5^tm1.1N	involves: 129S6/SvEvTac * C57BL/6NTac	MGI:6382560
hm3	Ttll5^tm1.1N/Ttll5^tm1.1N	involves: 129S6/SvEvTac * C57BL/6NTac * FVB/N	MGI:5514261

Genotype
MGI:5514262

hm1

• Allelic Composition: Ttll5^tm1.1N/Ttll5^tm1.1N
• Genetic Background: B6.Cg-Ttll5^tm1.1N

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

reproductive system

decreased litter size ( J:198583 )

• from male mice

reduced male fertility ( J:198583 )

Genotype
MGI:6382560

hm2

• Allelic Composition: Ttll5^tm1.1N/Ttll5^tm1.1N
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6NTac

vision/eye

abnormal ocular fundus morphology ( J:232177 )

• metallic gray color (instead of orange-red) at age 5 months

abnormal retina cone cell morphology ( J:232177 )

• mislocalization of S- and M-opsins to cell body and synaptic layer at age P20-40

thin retina outer nuclear layer ( J:232177 )

• significantly reduced average thickness at age 20-22 months

retina degeneration ( J:232177 )

• thinning of photoreceptor layers at age 20-22 months

decreased a-wave amplitude ( J:232177 )

• with scotopic ERG at age 20-22 months

• at age 4 months

decreased b-wave amplitude ( J:232177 )

• at age 4 months

• with scotopic and photopic ERG at age 20-22 months

nervous system

abnormal retina cone cell morphology ( J:232177 )

• mislocalization of S- and M-opsins to cell body and synaptic layer at age P20-40

Genotype
MGI:5514261

hm3

• Allelic Composition: Ttll5^tm1.1N/Ttll5^tm1.1N
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6NTac * FVB/N

Disrupted axoneme in Ttll5^tm1.1N/Ttll5^tm1.1N sperm tails

reproductive system

reproductive system phenotype ( J:198583 )

N • female mice exhibit normal reproduction

N • male mice exhibit normal male reproductive organs

teratozoospermia ( J:198583 )

♂ • detached heads and tails

abnormal sperm axoneme morphology ( J:198583 )

♂ • doublet 4 is missing in most axonemes

coiled sperm flagellum ( J:198583 )

♂

asthenozoospermia ( J:198583 )

♂ • especially in progressive motility

decreased litter size ( J:198583 )

♂ • from male, but not female, mice

reduced male fertility ( J:198583 )

♂

decreased fertilization frequency ( J:198583 )

♂ • in vitro, sperm fertilizes fewer eggs than expected

cellular

teratozoospermia ( J:198583 )

♂ • detached heads and tails

abnormal sperm axoneme morphology ( J:198583 )

♂ • doublet 4 is missing in most axonemes

coiled sperm flagellum ( J:198583 )

♂

abnormal cell physiology ( J:198583 )

♂ • reduced tubulin polyglutamylation in the spermatozoa

asthenozoospermia ( J:198583 )

♂ • especially in progressive motility

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:198583 )

N • mice exhibit normal cochlear hair cell development

vision/eye

vision/eye phenotype ( J:198583 )

N • mice exhibit normal retinal photoreceptor