All Phenotypes Gtpbp2<nmf205> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Gtpbp2^nmf205
neuroscience mutagenesis facility, 205
MGI:2681955

Summary

15 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Gtpbp2^nmf205/Gtpbp2^nmf205 n-TRtct5^m1J/n-TRtct5^m1J	C57BL/6J-Gtpbp2^nmf205/J	MGI:2681961
cx2	Gtpbp2^nmf205/Gtpbp2⁺ n-TRtct5^m1J/n-TRtct5^m1J	C57BL/6J-Gtpbp2^nmf205/J	MGI:5575490
cx3	Gtpbp2^nmf205/Gtpbp2^tm1Ynim n-TRtct5^m1J/n-TRtct5^m1J	(C57BL/6J-Gtpbp2^nmf205/J x B6.Cg-Gtpbp2^tm1Ynim)F1	MGI:5581408
cx4	Gtpbp2^nmf205/Gtpbp2^nmf205 n-TRtct5^m1J/n-TRtct5^m1J Tg(n-TRtct1)516Slac/0	C57BL/6J-Gtpbp2^nmf205 Tg(n-TRtct1)516Slac	MGI:6511084
cx5	Gtpbp2^nmf205/Gtpbp2^nmf205 n-TRtct5^m1J/n-TRtct5^m1J Tg(n-TRtct2)557Slac/0	C57BL/6J-Gtpbp2^nmf205 Tg(n-TRtct2)557Slac	MGI:6511088
cx6	Gtpbp2^nmf205/Gtpbp2^nmf205 Tg(n-TRtct5)609Slac/0	C57BL/6J-Gtpbp2^nmf205 Tg(n-TRtct5)609Slac	MGI:5577075
cx7	Gtpbp2^nmf205/Gtpbp2^nmf205 n-TRtct5^m1J/n-TRtct5⁺	involves: 129S1/SvImJ * C57BL/6J	MGI:5576754
cx8	Gtpbp2^nmf205/Gtpbp2^nmf205 n-TRtct5^m1J/n-TRtct5⁺	involves: A/J * C57BL/6J	MGI:5576755
cx9	Gtpbp2^nmf205/Gtpbp2^nmf205 n-TRtct5^m1J/n-TRtct5⁺	involves: AKR/J * C57BL/6J	MGI:5576756
cx10	Gtpbp2^nmf205/Gtpbp2^nmf205 Tg(n-TRtct5)574Slac/0	involves: C57BL/6J	MGI:5577078
cx11	Gtpbp2^nmf205/Gtpbp2^nmf205 n-TRtct5^m1J/n-TRtct5⁺	involves: C57BL/6J * C57BL/6NJ	MGI:5576757
cx12	Gtpbp2^nmf205/Gtpbp2^nmf205 n-TRtct5^m1J/n-TRtct5⁺	involves: C57BL/6J * CBA/J	MGI:5576759
cx13	Gtpbp2^nmf205/Gtpbp2^nmf205 n-TRtct5^m1J/n-TRtct5⁺	involves: C57BL/6J * DBA/2J	MGI:5576765
cx14	Gtpbp2^nmf205/Gtpbp2^nmf205 n-TRtct5^m1J/n-TRtct5⁺	involves: C57BL/6J * MA/MyJ	MGI:5576769
cx15	Gtpbp2^nmf205/Gtpbp2^nmf205 n-TRtct5^m1J/n-TRtct5⁺	involves: C57BL/6J * NOD/ShiLtJ	MGI:5577057

Allelic Composition	Gtpbp2^nmf205/Gtpbp2^nmf205 n-TRtct5^m1J/n-TRtct5^m1J
Genetic Background	C57BL/6J-Gtpbp2^nmf205/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gtpbp2^nmf205 mutation (1 available); any Gtpbp2 mutation (38 available)
n-TRtct5^m1J mutation (4 available); any n-TRtct5 mutation (4 available)

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

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:82238 )

• an unsteady gait can be observed in mutant mice at approximately 6-9 weeks of age

ataxia ( J:211326 )

• truncal ataxia evident at 6 weeks of age

cellular

increased neuron apoptosis ( J:211326 )

• between 3 and 4 weeks of age progressive apoptosis of neurons in the inner granule layer is found, between 5 and 8 weeks of age apoptosis of granule cells in the dentate gyrus, CA2 pyramidal neurons, and layer IV cortical neurons are found, and many neorons in the retina including photoreceptors and amacrine, horizontal, and ganglion cells degenerate during this time

abnormal ribosomal stalling ( J:211326 )

• the point mutation in n-Tr20 results in decreased levels of processed n-Tr20 and increased levels of immature n-Tr20 over time, particularly in the cerebellum, and the reduction in the available pool of this isodecoder results in ribosomal stalling at AGA codons, which is exacerbated in the absence of functional GTPBP2

mortality/aging

premature death ( J:211326 )

• homozygotes die at 8 to 9 weeks of age

nervous system

increased neuron apoptosis ( J:211326 )

abnormal hippocampus CA2 region morphology ( J:211326 )

• increased pyknotic nuclei are found in pyramidal neurons in the CA2 but not CA1 region of the hippocuampus

abnormal dentate gyrus morphology ( J:211326 )

abnormal cerebellum morphology ( J:211326 )

abnormal cerebellar layer morphology ( J:211326 )

decreased cerebellar granule cell number ( J:211326 )

• progressive apoptosis of inner granule layer neurons is found between 3 and 4 weeks of age

amacrine cell degeneration ( J:211326 )

retina ganglion cell degeneration ( J:211326 )

abnormal retina horizontal cell morphology ( J:211326 )

retina photoreceptor degeneration ( J:211326 )

vision/eye

abnormal retina morphology ( J:211326 )

• degeneration of many neurons in the retina occurs by 2 months of age, including photoreceptors, amacrine cells, horizontal cells, and ganglion cells

amacrine cell degeneration ( J:211326 )

retina ganglion cell degeneration ( J:211326 )

abnormal retina horizontal cell morphology ( J:211326 )

retina photoreceptor degeneration ( J:211326 )

retina degeneration ( J:211326 )

homeostasis/metabolism

abnormal ribosomal stalling ( J:211326 )

Allelic Composition	Gtpbp2^nmf205/Gtpbp2⁺ n-TRtct5^m1J/n-TRtct5^m1J
Genetic Background	C57BL/6J-Gtpbp2^nmf205/J

Find Mice

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

normal phenotype

no abnormal phenotype detected ( J:211326 )

• no neurodegeneration was observed

Allelic Composition	Gtpbp2^nmf205/Gtpbp2^tm1Ynim n-TRtct5^m1J/n-TRtct5^m1J
Genetic Background	(C57BL/6J-Gtpbp2^nmf205/J x B6.Cg-Gtpbp2^tm1Ynim)F1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gtpbp2^nmf205 mutation (1 available); any Gtpbp2 mutation (38 available)
Gtpbp2^tm1Ynim mutation (0 available); any Gtpbp2 mutation (38 available)
n-TRtct5^m1J mutation (4 available); any n-TRtct5 mutation (4 available)

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

nervous system

abnormal cerebellum morphology ( J:211326 )

• the progressive neuronal apoptosis that results in smaller cerebellum, hippocampus CA2 region, dentate gyrus, and degeneration in the retina of nmf205 homozygotes is also found in this compound heterozygote

neurodegeneration ( J:211326 )

Allelic Composition	Gtpbp2^nmf205/Gtpbp2^nmf205 n-TRtct5^m1J/n-TRtct5^m1J Tg(n-TRtct1)516Slac/0
Genetic Background	C57BL/6J-Gtpbp2^nmf205 Tg(n-TRtct1)516Slac

Find Mice

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

nervous system

nervous system phenotype ( J:297745 )

N	• no neurodegeneration in brain

Allelic Composition	Gtpbp2^nmf205/Gtpbp2^nmf205 n-TRtct5^m1J/n-TRtct5^m1J Tg(n-TRtct2)557Slac/0
Genetic Background	C57BL/6J-Gtpbp2^nmf205 Tg(n-TRtct2)557Slac

Find Mice

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

nervous system

nervous system phenotype ( J:297745 )

N	• no neurodegeneration in brain

Allelic Composition	Gtpbp2^nmf205/Gtpbp2^nmf205 Tg(n-TRtct5)609Slac/0
Genetic Background	C57BL/6J-Gtpbp2^nmf205 Tg(n-TRtct5)609Slac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gtpbp2^nmf205 mutation (1 available); any Gtpbp2 mutation (38 available)
Tg(n-TRtct5)609Slac mutation (0 available)

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

nervous system

abnormal cerebellum morphology ( J:211326 )

• although the cerebellum is not identical to Gtpbp2 wild-type controls, this transgene, which has brain-specific expression of wild-type n-Tr20, rescues most of the nmf205 mutant phenotype such that at 6 months of age the neuronal death is greatly attenuated in the brain and retina

Allelic Composition	Gtpbp2^nmf205/Gtpbp2^nmf205 n-TRtct5^m1J/n-TRtct5⁺
Genetic Background	involves: 129S1/SvImJ * C57BL/6J

Find Mice

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

normal phenotype

no abnormal phenotype detected ( J:211326 )

• with one allele of n-Tr20 from 129/SvImJ in an F2 population, nmf205 homozygotes do not display the neurological phenotype seen on a pure C57BL/6J background

Allelic Composition	Gtpbp2^nmf205/Gtpbp2^nmf205 n-TRtct5^m1J/n-TRtct5⁺
Genetic Background	involves: A/J * C57BL/6J

Find Mice

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

normal phenotype

no abnormal phenotype detected ( J:211326 )

• with one allele of n-Tr20 from A/J in an F2 population, nmf205 homozygotes do not display the neurological phenotype seen on a pure C57BL/6J background

Allelic Composition	Gtpbp2^nmf205/Gtpbp2^nmf205 n-TRtct5^m1J/n-TRtct5⁺
Genetic Background	involves: AKR/J * C57BL/6J

Find Mice

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

normal phenotype

no abnormal phenotype detected ( J:211326 )

• with one allele of n-Tr20 from AKR/J in an F2 population, nmf205 homozygotes do not display the neurological phenotype seen on a pure C57BL/6J background

Allelic Composition	Gtpbp2^nmf205/Gtpbp2^nmf205 Tg(n-TRtct5)574Slac/0
Genetic Background	involves: C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gtpbp2^nmf205 mutation (1 available); any Gtpbp2 mutation (38 available)
Tg(n-TRtct5)574Slac mutation (0 available)

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

nervous system

abnormal cerebellum morphology ( J:211326 )

Allelic Composition	Gtpbp2^nmf205/Gtpbp2^nmf205 n-TRtct5^m1J/n-TRtct5⁺
Genetic Background	involves: C57BL/6J * C57BL/6NJ

Find Mice

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

normal phenotype

no abnormal phenotype detected ( J:211326 )

• with one allele of n-Tr20 from C57BL/6NJ in an F2 population, nmf205 homozygotes do not display the neurological phenotype seen on a pure C57BL/6J background

Allelic Composition	Gtpbp2^nmf205/Gtpbp2^nmf205 n-TRtct5^m1J/n-TRtct5⁺
Genetic Background	involves: C57BL/6J * CBA/J

Find Mice

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

normal phenotype

no abnormal phenotype detected ( J:211326 )

• with one allele of n-Tr20 from CBA/J in an F2 population, nmf205 homozygotes do not display the neurological phenotype seen on a pure C57BL/6J background

Allelic Composition	Gtpbp2^nmf205/Gtpbp2^nmf205 n-TRtct5^m1J/n-TRtct5⁺
Genetic Background	involves: C57BL/6J * DBA/2J

Find Mice

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

normal phenotype

no abnormal phenotype detected ( J:211326 )

• with one allele of n-Tr20 from DBA/2J in an F2 population, nmf205 homozygotes do not display the neurological phenotype seen on a pure C57BL/6J background

Allelic Composition	Gtpbp2^nmf205/Gtpbp2^nmf205 n-TRtct5^m1J/n-TRtct5⁺
Genetic Background	involves: C57BL/6J * MA/MyJ

Find Mice

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

normal phenotype

no abnormal phenotype detected ( J:211326 )

• with one allele of n-Tr20 from MA/MyJ in an F2 population, nmf205 homozygotes do not display the neurological phenotype seen on a pure C57BL/6J background

Allelic Composition	Gtpbp2^nmf205/Gtpbp2^nmf205 n-TRtct5^m1J/n-TRtct5⁺
Genetic Background	involves: C57BL/6J * NOD/ShiLtJ

Find Mice

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

normal phenotype

no abnormal phenotype detected ( J:211326 )

• with one allele of n-Tr20 from NOD/ShiLtJ in an F2 population, nmf205 homozygotes do not display the neurological phenotype seen on a pure C57BL/6J background

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