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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Rfx2tm1.2Wrth
targeted mutation 1.2, Walter Reith
MGI:5792885
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Rfx2tm1.2Wrth/Rfx2tm1.2Wrth involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N MGI:7284682


Genotype
MGI:7284682
hm1
Allelic
Composition
Rfx2tm1.2Wrth/Rfx2tm1.2Wrth
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rfx2tm1.2Wrth mutation (0 available); any Rfx2 mutation (79 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• female mice show no obvious reproductive defects and produce litters of normal size
• spermatids show complete failure of axoneme elongation
• within multinucleated giant cells, clusters of centrioles occur but without associated axonemes
• spermatids that are about to arrest show variations in acrosome morphology
• multiple acrosomic vesicles may be present with no attachment to the nucleus or coexisting with some degree of an attached and flattened acrosome
• atypical acrosomes that have attached and spread but contain multiple cytoplasmic inclusions are occasionally observed
• at P30, Golgi-derived proacrosomic vesicles are present but frequently fail to attach to the nucleus and the acrosome appears disorganized
• in most cases, the acrosome fails to spread normally over the anterior end of the nucleus as observed in wild-type step 7 spermatids
• the acrosome frequently occurs as unattached vesicles
• although no manchette is observed, dense microtubule clusters are seen in multinucleated cells, suggesting ectopic manchette formation
• at approximately step 6-7, spermatids begin to fuse into giant multinucleated cells that subsequently develop highly condensed nuclei (symplasts) and are released into the epididymis
• nuclear condensation in multinucleated cells is not due to induction of apoptosis
• within multinucleated giant cells, clusters of centrioles occur but without associated axonemes
• the nucleus and associated acrosome do not appear to merge with the plasma membrane, suggesting that junctions between the germ cells and Sertoli cells, known as the apical ectoplasmic specialization, do not form
• young adult males have slightly smaller testes than control males
• although spermatogenesis shows normal progression through meiosis, haploid cells undergo a complete block in spermatid development just prior to spermatid elongation
• haploid cells arrest around step 7 of the round spermatid phase and are shed from the germinal epithelium, with no evidence of flagellum formation or nuclear condensation
• however, arrested spermatid differentiation is not associated with increased apoptosis or accelerated accumulation of transition proteins in the nuclei
• at 3 months of age, the cauda epididymis contains large numbers of degenerating small cells and cell debris but no mature sperm
• males are completely sterile

cellular
N
• no ciliated-epithelia phenotypes are observed
• spermatids show complete failure of axoneme elongation
• within multinucleated giant cells, clusters of centrioles occur but without associated axonemes
• spermatids that are about to arrest show variations in acrosome morphology
• multiple acrosomic vesicles may be present with no attachment to the nucleus or coexisting with some degree of an attached and flattened acrosome
• atypical acrosomes that have attached and spread but contain multiple cytoplasmic inclusions are occasionally observed
• at P30, Golgi-derived proacrosomic vesicles are present but frequently fail to attach to the nucleus and the acrosome appears disorganized
• in most cases, the acrosome fails to spread normally over the anterior end of the nucleus as observed in wild-type step 7 spermatids
• the acrosome frequently occurs as unattached vesicles
• although no manchette is observed, dense microtubule clusters are seen in multinucleated cells, suggesting ectopic manchette formation
• at approximately step 6-7, spermatids begin to fuse into giant multinucleated cells that subsequently develop highly condensed nuclei (symplasts) and are released into the epididymis
• nuclear condensation in multinucleated cells is not due to induction of apoptosis
• within multinucleated giant cells, clusters of centrioles occur but without associated axonemes
• the Golgi apparatus frequently appears disoriented such that dense-cored proacrosomic vesicles migrate away from the nucleus
• in spermatids, the cis-Golgi marker GM130 is diffusely distributed around nuclei rather than being concentrated at one pole of the nuclei above the forming acrosome, indicating altered Golgi re-distribution at the onset of the haploid stage

endocrine/exocrine glands
• the nucleus and associated acrosome do not appear to merge with the plasma membrane, suggesting that junctions between the germ cells and Sertoli cells, known as the apical ectoplasmic specialization, do not form
• young adult males have slightly smaller testes than control males

embryo
N
• no major defects in left/right asymmetry are observed





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory