CRISPR/cas9 mediated recombination using a single guide RNA (AGATGTGAGGGATGTGCCCAAG) introduced a c.13198G>A in exon 76. The introduced mutation was designed to be homologous to the c.12838G>A identified in a human patient with multiple morphological abnormalities of the sperm flagella (MMAF). Immunostaining indicated reduced levels of expression in testes and spermatozoa from homozygous males. (J:311550)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Endonuclease-mediated
Single point
--
1
3
1

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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