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)|
|Allele Synonym(s)||Ahi1tm1Jgg; targeted mutation 1, Joseph G Gleeson|
|Gene Symbol and Name||Ahi1, Abelson helper integration site 1|
|Gene Synonym(s)||AHI-1; dJ71N10.1; Jouberin; D10Bwg0629e; D10Bwg0629e; DNA segment, Chr 10, Brigham & Women's Genetics 0629 expressed; ORF1; JBTS3; 1700015F03Rik; RIKEN cDNA 1700015F03 gene; Ahi-1; 1700015F03Rik; Ahi-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.
|Heterozygous or wildtype for Ahi1<tm1Jgg>|
We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.
Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation.
|Frozen Mouse Embryo||$2,595.00 per straw or vial|
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