Phenotypes associated with this allele

• Allele Symbol: Ttbk2^{tm1a(EUCOMM)Hmgu}
• Allele Name: targeted mutation 1a, Helmholtz Zentrum Muenchen GmbH
• Allele ID: MGI:5296197
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ttbk2^tm1a(EUCOMM)Hmgu/Ttbk2^tm1a(EUCOMM)Hmgu	involves: C57BL/6 * C57BL/6N	MGI:6305410
ht2	Ttbk2^bby/Ttbk2^tm1a(EUCOMM)Hmgu	involves: C57BL/6 * C57BL/6N	MGI:6305411
ht3	Ttbk2^tm1Dral/Ttbk2^tm1a(EUCOMM)Hmgu	involves: C57BL/6 * C57BL/6N	MGI:6305412

Genotype
MGI:6305410

hm1

• Allelic Composition: Ttbk2^{tm1a(EUCOMM)Hmgu}/Ttbk2^{tm1a(EUCOMM)Hmgu}
• Genetic Background: involves: C57BL/6 * C57BL/6N
• Cell Lines: HEPD0767_5_E08

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

cellular

abnormal cilium morphology ( J:269515 )

• mouse embryonic fibroblasts (MEFs) show fewer cells that are ciliated compared to controls MEFs

• mean cilia length is reduced in MEFs

• however, overall structure of cilia in neural tube sections from E10.5 embryos is normal

growth/size/body

polycystic kidney ( J:269515 )

• variable penetrance of polycystic kidney by 6 months of age

nervous system

hydrocephaly ( J:269515 )

• variable penetrance of hydrocephalus by 6 months of age

• however, neural patterning in E10.5 embryos is similar to heterozygous controls

renal/urinary system

polycystic kidney ( J:269515 )

• variable penetrance of polycystic kidney by 6 months of age

Genotype
MGI:6305411

ht2

• Allelic Composition: Ttbk2^bby/Ttbk2^{tm1a(EUCOMM)Hmgu}
• Genetic Background: involves: C57BL/6 * C57BL/6N
• Cell Lines: HEPD0767_5_E08

mortality/aging

perinatal lethality, complete penetrance ( J:269515 )

• embryos and neonates are recovered at nearly Mendelian frequencies up to birth but die by P1

cellular

abnormal cilium morphology ( J:269515 )

• mouse embryonic fibroblasts (MEFs) show fewer cells that are ciliated compared to controls MEFs

• mean cilia length is reduced in MEFs

• treatment of MEFs with nocodazole results in a modest decrease in the percentage of ciliated cells compared to wild-type MEFs that show a slight decrease, indicating that cilium stability is somewhat compromised

• however, overall structure of cilia in neural tube sections from E10.5 embryos is normal

limbs/digits/tail

polydactyly ( J:269515 )

• fully penetrant polydactyly on all 4 limbs at E15.5

nervous system

abnormal nervous system development ( J:269515 )

• E10.5 embryos exhibit only mild defects in neural patterning, with normal distribution of motor neurons but a small number of motor neurons at the ventral midline and an increase in the number of NKX2.2+ and OLIG2+ cells

Genotype
MGI:6305412

ht3

• Allelic Composition: Ttbk2^tm1Dral/Ttbk2^{tm1a(EUCOMM)Hmgu}
• Genetic Background: involves: C57BL/6 * C57BL/6N
• Cell Lines: HEPD0767_5_E08

mortality/aging

prenatal lethality, incomplete penetrance ( J:269515 )

• only 9.5% of pups instead of the expected 25% of pups are recovered at birth, suggesting some prenatal lethality

embryo

abnormal neural tube morphology ( J:269515 )

• structure of cilia in neural tube sections from E10.5 embryos is abnormal, with microtubules appearing less distinct, with the proximal cilium/transition zone having a less organized appearance, and vesicles within the ciliary axonemes

cellular

abnormal cilium morphology ( J:269515 )

• mouse embryonic fibroblasts (MEFs) show fewer cells that are ciliated compared

• mean cilia length is reduced in MEFs

• treatment of MEFs with nocodazole results in a rapid reduction in ciliated cells and the length of remaining cilia reduces over time compared to wild-type MEFs which show a slight decrease, indicating that cilium stability is compromised

limbs/digits/tail

polydactyly ( J:269515 )

• fully penetrant polydactyly on all 4 limbs at E15.5

nervous system

abnormal nervous system development ( J:269515 )

• E10.5 embryos show defects in neural patterning, with the ISL1+ motor neuron domain shifted ventrally and ISL1+ cells at the ventral midline, an extensive intermixing of OLIG2+ and NKX2.2+ progenitor populations, and OLIG2+ cells that are often found at the ventral midline

abnormal neural tube morphology ( J:269515 )

• structure of cilia in neural tube sections from E10.5 embryos is abnormal, with microtubules appearing less distinct, with the proximal cilium/transition zone having a less organized appearance, and vesicles within the ciliary axonemes