Exons 6, 7, and 8 were replaced with a cassette containing a neomycin resistance gene, a single loxP site, and a 5' portion of an hprt minigene. Sequence analysis of RT-PCR products verified the deletion of the targeted exons and the splicing of exon 5 to exon 9, resulting in frameshift and consequent nonsense mutation. The transcript encodes a truncated protein containing 2 putative SH3-binding domains. The single loxP site was inserted for use as a centromeric anchor point for a larger deletion extending from the rhoGAP domain of Arhgap6 through a 5' untranslated exon of Mid1, recapitulating a deletion associated with human MLS. (J:80946)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S7/SvEvBrd-Hprt1b-m2
Targeted
Insertion, Intragenic deletion
--
1
2
2

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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