Homozygous Ahi1 (Abelson helper integration site 1) targeted mutation mice, completely lacking protein expression, are severely runted and frequently die during the neonatal period. Surviving homozygotes exhibit retinal photoreceptor degeneration and also develop a mild, late-onset cystic kidney phenotype. This strain may be useful as a model of Joubert syndrome.
Joseph G Gleeson, University of California, San Diego
Homozygous Ahi1 (Abelson helper integration site 1) targeted mutation mice, completely lacking protein expression, are severely runted and frequently die during the neonatal period. Approximately 80% reportedly do not survive to adulthood. Surviving homozygotes exhibit retinal photoreceptor degeneration and also develop a mild, late-onset cystic kidney phenotype. By 5 months of age, the kidneys of homozygotes are smaller compared to littermate controls and show the characteristic histological triad of nephronophthisis: 1) tubular basement membrane abnormalities, including thickening and disintegration with tubular collapse; 2) interstitial cell infiltrate and fibrosis; 3) delayed appearance (1 year) of multiple microcysts and tubular dilation. This strain may be useful as a model of Joubert syndrome.
A loxP-flanked PGK-Neomycin resistance cassette was introduced to intron 7 and exons 6 and 7 of the targeted gene were flanked by loxP sites in (129X1/SvJ x 129S1/Sv)F1- Kitl+-derived R1 embryonic stem (ES) cells. Crosses with an EIIa-Cre strain were used to excise the PGK-neomycin cassette as well as exons 6 and 7. This strain was backcrossed to C57BL/6 for 9 generations by the donating laboratory.
|Allele Name||targeted mutation 1, Joseph G Gleeson|
|Allele Type||Targeted (Null/Knockout)|
|Gene Symbol and Name||Ahi1, Abelson helper integration site 1|
|Strain of Origin||(129X1/SvJ x 129S1/Sv)F1-Kitl+|
|Molecular Note||A loxP site was inserted upstream of exon 6 and a floxed neo cassette was inserted downstream of exon 7. Cre-mediated recombination removed exon 6 and 7 and the neo cassette. The lack of protein expression was confirmed by western blot analysis on brain extracts.|
|Mutations Made By|| |
Joseph Gleeson, University of California, San Diego
When maintained as a live colony, heterozygotes may be bred. Homozygotes have poor viability after birth and are infertile.
When using the B6.129(Cg)-Ahi1tm1Jgg/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #013168 in your Materials and Methods section.
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