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Phenotypes Associated with This Genotype
Genotype
MGI:2655964
Allelic
Composition
Tnp1tm1Mlm/Tnp1tm1Mlm
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tnp1tm1Mlm mutation (1 available); any Tnp1 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• homozygotes exhibit no differences in testis and seminal vesicle weights and sperm counts relative to wild-type and heterozygous controls
• mutant sperm with tails coiled around the heads are observed
• however, most cauda epididymal sperm appear relatively normal
• homozygotes display a significantly higher frequency of epididymal sperm heads in which the nuclear apex is bent or blunted
• large rod-like chromatin condensation units are observed in nuclei of mutant step 13 spermatids, unlike the fine chromatin fibrils observed in wild type; after step 14, all of the chromatin becomes condensed and darkly stained with hematoxylin
• EM revealed large rod-like chromatin condensation units in the nuclei of mutant step 13 spermatids, in contrast to the fine chromatin fibrils observed in wild type
• only 23% of mutant sperm exhibit any motility
• most of these sperm fail to show forward progression
• in steps 12 and 13, mutant spermatid nuclei exhibit increased levels of transition protein 2 (TNP2), accounting for 91% of the basic nuclear protein, as well as increased levels of protamine 2 precursor pP2 (2%-11% vs 0% in controls); in contrast, histone displacement occurs normally
• in steps 14-16 spermatids, pP2 is 21% of the total nuclear protein relative to only 10% and 5% in heterozygous and wild-type males, respectively, and the ratio of pP2 to pP2/11 is increased, suggesting abnormal P2 processing
• although most of the precursor is processed to mature P2, high levels of incompletely processed forms pesist in epididymal spermatozoa
• Background Sensitivity: whereas fertile B6 x 129 F2 male homozygotes (16 weeks of age) exhibit normal litter sizes relative to wild-type controls, those on an inbred 129 background (9 weeks of age) display a 70% reduction in litter size relative to wild-type and heterozygous controls
• Background Sensitivity: 70% of male homozygotes are infertile on a hybrid genetic background (B6 x 129 F2) versus 60% on an inbred 129 background
• fertile homozygotes on both the B6 129 F2 and 129 backgrounds produce a reduced number of litters/pair relative to wild-type controls

cellular
• mutant sperm with tails coiled around the heads are observed
• however, most cauda epididymal sperm appear relatively normal
• homozygotes display a significantly higher frequency of epididymal sperm heads in which the nuclear apex is bent or blunted
• large rod-like chromatin condensation units are observed in nuclei of mutant step 13 spermatids, unlike the fine chromatin fibrils observed in wild type; after step 14, all of the chromatin becomes condensed and darkly stained with hematoxylin
• EM revealed large rod-like chromatin condensation units in the nuclei of mutant step 13 spermatids, in contrast to the fine chromatin fibrils observed in wild type
• only 23% of mutant sperm exhibit any motility
• most of these sperm fail to show forward progression


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory