Approximatley 50% of homozygous Atxn1l (ataxin 1-like) KO mice die before postnatal day 21. Hydrocephalus, omphalocele, and lung alveolar deficits are observed. This strain may be helpful in studies related to extracellular matrix remodeling and lung alveolarization.
Huda Zoghbi, Baylor College of Medicine
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Targeted (Null/Knockout) | Atxn1l | ataxin 1-like |
Homozygous Atxn1l (ataxin 1-like) knockout mice are smaller than their wildtype littermates. Approximatley 50% are reported to die before postnatal day 21 on this C57BL/6J genetic background. About 31% of the surviving animals develop hydrocephalus. Symptomatic homozygotes develop a dome-shaped head, kyphosis, lethargy and emaciation sometime between 1 and 4 weeks after birth. Omphalocele (an umbilical hernia/abdominal wall closure defect) is observed in a small percentage of these mice. Lung alveolarization defects coincidental with a destabilization of transcriptional repressor Cic (capicua homolog (Drosophila)) and overexpression of matrix metalloproteinase (MMP) proteins are also seen. Western blots demonstrate an absence of ATXN1L expression in homozygous embryos. Heterozygotes develop hydrocephalus at a very low frequency (<1%). Hydrocephalus, omphalocele, and lung alveolar deficits are more penetrant and severe when combined with an Atxn1 (ataxin 1) knockout, suggesting the two genes are functionally redundant. This strain may be helpful in studies of extracellular matrix remodeling and lung alveolarization.
A loxP site was introduced to intron 3 and a loxP-flanked TK-neomycin resistance cassette was placed in exon 4 following the Atxn1l open reading frame. AB2.2 129S7/SvEvBrd-Hprt1+-derived embryonic stem (ES) cells were used to create the mutation. Transient expression of a cre plasmid excised the floxed segments, removing both the Atxn1l open reading frame and neomycin cassette. This strain was backcrossed 11 times to C57BL/6J by the donating laboratory.
Allele Name | targeted mutation 2.1, Huda Y Zoghbi |
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Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | |
Gene Symbol and Name | Atxn1l, ataxin 1-like |
Gene Synonym(s) | |
Strain of Origin | 129S7/SvEvBrd-Hprtb-m2 |
Chromosome | 8 |
Molecular Note | A loxP site was inserted upstream of the open reading frame and a floxed neo cassette was inserted downstream of the open reading frame via homologous recombination. Cre mediated recombination removed the open reading frame and the neo cassette. |
Mutations Made By | Huda Zoghbi, Baylor College of Medicine |
Heterozygotes are viable and fertile, but 50% of homozygous mice are reported to die before postnatal day 21 (P21).
When using the B6.129S7-Atxn1ltm2.1Hzo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #017942 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or wildtype for Atxn1l<tm2.1Hzo> |
Frozen Mouse Embryo | B6.129S7-Atxn1l<tm2.1Hzo>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.129S7-Atxn1l<tm2.1Hzo>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.129S7-Atxn1l<tm2.1Hzo>/J Frozen Embryo | $3373.50 |
Frozen Mouse Embryo | B6.129S7-Atxn1l<tm2.1Hzo>/J Frozen Embryo | $3373.50 |
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