All Phenotypes Atxn1l<tm1.1Hzo> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Atxn1l^tm1.1Hzo
targeted mutation 1.1, Huda Y Zoghbi
MGI:4819750

Summary

1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Atxn1^tm1Hzo/Atxn1⁺ Atxn1l^tm1.1Hzo/Atxn1l⁺	involves: 129S7/SvEvBrd * C57BL/6J	MGI:4819767

Allelic Composition	Atxn1^tm1Hzo/Atxn1⁺ Atxn1l^tm1.1Hzo/Atxn1l⁺
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn1l^tm1.1Hzo mutation (0 available); any Atxn1l mutation (24 available)
Atxn1^tm1Hzo mutation (1 available); any Atxn1 mutation (50 available)

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

mortality/aging

premature death ( J:119643 )

• mice die before 70 weeks of age compared to 60 weeks for Atxn1^tm1Hzo heterozygotes

nervous system

nervous system phenotype ( J:119643 )

N	• Purkinje cell loss observed in Atxn1^tm1Hzo heterozygotes is rescued

abnormal Purkinje cell dendrite morphology ( J:119643 )

• Purkinje cell dendrites are more complex than in Atxn1^tm1Hzo heterozygotes

• atrophy of the Purkinje cell soma is improved compared to in Atxn1^tm1Hzo heterozygotes

• Purkinje cells exhibit an increase in inclusions compared to in Atxn1^tm1Hzo heterozygotes

neuron degeneration ( J:119643 )

• mice exhibit partial rescue of neuron loss observed in Atxn1^tm1Hzo heterozygotes

behavior/neurological

behavior/neurological phenotype ( J:119643 )

N	• mice exhibit suppression of the ataxia observed in Atxn1^tm1Hzo heterozygotes

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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