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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pafah1b1Gt(IRESBetageo)1Hha
gene trap 1, Hans-Henning Arnold
MGI:2683481
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pafah1b1Gt(IRESBetageo)1Hha/Pafah1b1Gt(IRESBetageo)1Hha involves: 129/Sv * NMRI MGI:2683624


Genotype
MGI:2683624
hm1
Allelic
Composition
Pafah1b1Gt(IRESBetageo)1Hha/Pafah1b1Gt(IRESBetageo)1Hha
Genetic
Background
involves: 129/Sv * NMRI
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pafah1b1Gt(IRESBetageo)1Hha mutation (0 available); any Pafah1b1 mutation (159 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Testis abnormalities in Pafah1b1Gt(IRESBetageo)1Hha/Pafah1b1Gt(IRESBetageo)1Hha mice

endocrine/exocrine glands
• an increase in the number of apoptotic cells is seen in mutant testis
• approximately 50% smaller than those of wild-type

reproductive system
• the epididymides were devoid of spermatozoa
• mutant spermatids often contain two distinct vesicles with proacrosomal granules that already made contact with the nucleus instead the normal spermatids in which the two vesicles typically fuse to a single, rounded proacrosomal vesicle prior to contacting the nuclear envelope
• mutant testis frequently shows dilated acrosomes
• spermatids have nuclei with poorly condensed chromatin
• spermatids are abnormally shaped with numerous invaginations and kinks never seen in wild-type cells
• spermatid tail formation is impaired, as many contain the basal tail cuff at the point of insertion but fail to add axonemes to elongate the tail structure
• occasionally, more than one tail-like protrusion starts to form in several locations of mutant spermatids
• the normal location of spermatids in the apical region of the tubules is changed and spermatids appear mostly round rather than elongated
• spermatogonia normally found at the base of the seminiferous epithelium in close association with the lamina propria are misplaced toward the lumen of tubules in mutant testis
• an increase in the number of apoptotic cells is seen in mutant testis
• approximately 50% smaller than those of wild-type
• spermatids failed to form normal acrosomes
• at P90, round and elongating spermatids are released prematurely from the epithelium and located inside the lumen of the tubules
• spermatogonia, spermatocytes, and round spermatids are formed in seminiferous tubules, however the late transition to spermatozoa fails to occur indicating a block in late spermatid differentiation and resulting in severe reduction of mature gametes

cellular
• the epididymides were devoid of spermatozoa
• mutant spermatids often contain two distinct vesicles with proacrosomal granules that already made contact with the nucleus instead the normal spermatids in which the two vesicles typically fuse to a single, rounded proacrosomal vesicle prior to contacting the nuclear envelope
• mutant testis frequently shows dilated acrosomes
• spermatids have nuclei with poorly condensed chromatin
• spermatids are abnormally shaped with numerous invaginations and kinks never seen in wild-type cells
• spermatid tail formation is impaired, as many contain the basal tail cuff at the point of insertion but fail to add axonemes to elongate the tail structure
• occasionally, more than one tail-like protrusion starts to form in several locations of mutant spermatids
• the normal location of spermatids in the apical region of the tubules is changed and spermatids appear mostly round rather than elongated
• spermatogonia normally found at the base of the seminiferous epithelium in close association with the lamina propria are misplaced toward the lumen of tubules in mutant testis





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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
04/23/2024
MGI 6.23
The Jackson Laboratory