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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Ttll5tm1.1N
targeted mutation 1.1, National Institutes of Health
MGI:5467943
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Ttll5tm1.1N/Ttll5tm1.1N B6.Cg-Ttll5tm1.1N MGI:5514262
hm2
 		Ttll5tm1.1N/Ttll5tm1.1N involves: 129S6/SvEvTac * C57BL/6NTac MGI:6382560
hm3
 		Ttll5tm1.1N/Ttll5tm1.1N involves: 129S6/SvEvTac * C57BL/6NTac * FVB/N MGI:5514261


Genotype
MGI:5514262
hm1
Allelic
Composition		 Ttll5tm1.1N/Ttll5tm1.1N
Genetic
Background		 B6.Cg-Ttll5tm1.1N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ttll5tm1.1N mutation (1 available); any Ttll5 mutation (66 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
decreased litter size ( J:198583 )
• from male mice




Genotype
MGI:6382560
hm2
Allelic
Composition		 Ttll5tm1.1N/Ttll5tm1.1N
Genetic
Background		 involves: 129S6/SvEvTac * C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ttll5tm1.1N mutation (1 available); any Ttll5 mutation (66 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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		 Ttll5tm1.1N/Ttll5tm1.1N
Genetic
Background		 involves: 129S6/SvEvTac * C57BL/6NTac * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ttll5tm1.1N mutation (1 available); any Ttll5 mutation (66 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Disrupted axoneme in Ttll5tm1.1N/Ttll5tm1.1N sperm tails

reproductive system
reproductive system phenotype ( J:198583 )
N
• female mice exhibit normal reproduction
• 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
asthenozoospermia ( J:198583 )
• especially in progressive motility
decreased litter size ( J:198583 )
• from male, but not female, mice
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
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




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/30/2024
MGI 6.23 		The Jackson Laboratory