Phenotypes Associated with This Genotype

Genotype
MGI:6383725

• Allelic Composition: Ttll3^{tm1d(EUCOMM)Wtsi}/Ttll3^{tm1d(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6N

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

cellular

abnormal photoreceptor connecting cilium morphology ( J:249732 )

• progressive tubulin hyperglutamylation in cilium microtubles from age 4 months

• cilia 17% and 43 % shorter at age 4 and 12 months

• normal cilia length at age P15 and 5 weeks

nervous system

abnormal photoreceptor connecting cilium morphology ( J:249732 )

• progressive tubulin hyperglutamylation in cilium microtubles from age 4 months

• cilia 17% and 43 % shorter at age 4 and 12 months

• normal cilia length at age P15 and 5 weeks

retina photoreceptor degeneration ( J:249732 )

• progressive tubulin hyperglutamylation in microtubles of photoreceptor connecting cilia between inner and outer segments from age 4 months

• photoreceptor connecting cilia 17% and 43 % shorter at age 4 and 12 months

• rhodopsin pigment detected in outer nuclear layer (ONL) at age 12 months

• increased glial fibrillary acidic protein (GFAP) levels in outer nuclear layer (ONL) at age 12 months

• increased number of apoptotic cells in outer nuclear layer (ONL) at age 14 months

• normal photoreceptor connecting cilia length at age P15 and 5 weeks

• normal number of apoptotic cells in outer nuclear layer (ONL) at age 4 months

vision/eye

abnormal photoreceptor connecting cilium morphology ( J:249732 )

• progressive tubulin hyperglutamylation in cilium microtubles from age 4 months

• cilia 17% and 43 % shorter at age 4 and 12 months

• normal cilia length at age P15 and 5 weeks

retina photoreceptor degeneration ( J:249732 )

• progressive tubulin hyperglutamylation in microtubles of photoreceptor connecting cilia between inner and outer segments from age 4 months

• photoreceptor connecting cilia 17% and 43 % shorter at age 4 and 12 months

• rhodopsin pigment detected in outer nuclear layer (ONL) at age 12 months

• increased glial fibrillary acidic protein (GFAP) levels in outer nuclear layer (ONL) at age 12 months

• increased number of apoptotic cells in outer nuclear layer (ONL) at age 14 months

• normal photoreceptor connecting cilia length at age P15 and 5 weeks

• normal number of apoptotic cells in outer nuclear layer (ONL) at age 4 months

abnormal retina outer nuclear layer morphology ( J:249732 )

• rhodopsin pigment detected in ONL at age 12 months

retina outer nuclear layer degeneration ( J:249732 )

• rhodopsin pigment detected in ONL at age 12 months

• increased glial fibrillary acidic protein (GFAP) levels in ONL at age 12 months

• increased number of apoptotic cells in ONL at age 14 months

• normal number of apoptotic cells in ONL at age 4 months