About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pick1tm1Rlh
targeted mutation 1, Richard L Huganir
MGI:3584144
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pick1tm1Rlh/Pick1tm1Rlh involves: 129S1/Sv * 129X1/SvJ MGI:3624321
hm2
Pick1tm1Rlh/Pick1tm1Rlh involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3589568


Genotype
MGI:3624321
hm1
Allelic
Composition
Pick1tm1Rlh/Pick1tm1Rlh
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pick1tm1Rlh mutation (1 available); any Pick1 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Abnormal sperm morphology in Pick1tm1Rlh/Pick1tm1Rlh mice

nervous system
• cerebellar LTD is absent in Pick1-deficient mice as measured in dissociated cerebellar cultures and in parasagittal brain slices from P20-25 mice; transfection of cultured neurons with full length wild-type Pick1 cDNA rescues LTD

reproductive system
• total number of sperm from the cauda epididymis of adult homozygotes is significantly lower than that of wild-type and heterozygous controls
• ~90% of mutant sperm from the cauda epididymis are round-headed with abnormal acrosomes, abnormal nuclear shapes, and abnormal mitochondrial sheaths
• mutant mitochondrial sheaths exhibit various defects, including abnormal sperm with aggregated mitochondrial sheaths, split mitochondrial sheaths, mitochondrial sheaths overlapping with the round nucleus, and in some cases wrapping around the round nucleus
• mutant acrosomes fail to acquire the crescent moon-shaped structure, are frequently fragmented, and abnormally positioned (J:149846)
• fragmentation of acrosomes occurs in the early stages of spermiogenesis (J:149846)
• fragmented (J:233657)
• ~90% of mutant sperm lack the typical hook-shaped head of wild-type sperm; instead, they have round or irregular ball-like heads
• globozoospermia is likely a consequence of abnormal trafficking of proacrosomal granules resulting in impaired formation of acrosomes
• ~90% of mutant sperm from the cauda epididymis are round-headed with deformed (round) nuclei (J:149846)
• elongation of the nuclei of mutant spermatids is impaired in the late stages of spermiogenesis resulting in round-shaped nuclei (J:149846)
• impaired nucleus formation (J:233657)
• TUNEL staining indicates significantly more apoptotic germ cells, many of them spermatids, in mutant seminiferous tubules than in wild-type tubules (2.5% vs 0.4%, respectively), suggesting increased apoptosis during late stages of spermatogenesis
• the number of motile mutant sperm is less than 4% of that from wild-type littermates
• none of the mutant sperm display rapid progressive linear motility
• the diameter of homozygous mutant seminiferous tubules is significantly smaller than that of wild-type and heterozygous tubules
• homozygous mutant testes are smaller than those of wild-type and heterozygous mice
• normalized testis weights of homozygous mutant mice are significantly lower than those of both wild-type and heterozygous mice
• sperm abnormalities are likely occur in the transition from round spermatids to mature sperm during spermiogenesis
• male homozygotes copulate normally but are completely infertile

endocrine/exocrine glands
• the diameter of homozygous mutant seminiferous tubules is significantly smaller than that of wild-type and heterozygous tubules
• homozygous mutant testes are smaller than those of wild-type and heterozygous mice
• normalized testis weights of homozygous mutant mice are significantly lower than those of both wild-type and heterozygous mice

cellular
• total number of sperm from the cauda epididymis of adult homozygotes is significantly lower than that of wild-type and heterozygous controls
• ~90% of mutant sperm from the cauda epididymis are round-headed with abnormal acrosomes, abnormal nuclear shapes, and abnormal mitochondrial sheaths
• mutant mitochondrial sheaths exhibit various defects, including abnormal sperm with aggregated mitochondrial sheaths, split mitochondrial sheaths, mitochondrial sheaths overlapping with the round nucleus, and in some cases wrapping around the round nucleus
• mutant acrosomes fail to acquire the crescent moon-shaped structure, are frequently fragmented, and abnormally positioned (J:149846)
• fragmentation of acrosomes occurs in the early stages of spermiogenesis (J:149846)
• fragmented (J:233657)
• ~90% of mutant sperm lack the typical hook-shaped head of wild-type sperm; instead, they have round or irregular ball-like heads
• globozoospermia is likely a consequence of abnormal trafficking of proacrosomal granules resulting in impaired formation of acrosomes
• ~90% of mutant sperm from the cauda epididymis are round-headed with deformed (round) nuclei (J:149846)
• elongation of the nuclei of mutant spermatids is impaired in the late stages of spermiogenesis resulting in round-shaped nuclei (J:149846)
• impaired nucleus formation (J:233657)
• TUNEL staining indicates significantly more apoptotic germ cells, many of them spermatids, in mutant seminiferous tubules than in wild-type tubules (2.5% vs 0.4%, respectively), suggesting increased apoptosis during late stages of spermatogenesis
• the number of motile mutant sperm is less than 4% of that from wild-type littermates
• none of the mutant sperm display rapid progressive linear motility




Genotype
MGI:3589568
hm2
Allelic
Composition
Pick1tm1Rlh/Pick1tm1Rlh
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pick1tm1Rlh mutation (1 available); any Pick1 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• following high-frequency stimulation on the cerebellum slice culture, no increase in the rectification ratio was observed, indicating that calcium-permeable AMPA receptor plasticity (CARP) does not occur in these mutant mice





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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
04/16/2024
MGI 6.23
The Jackson Laboratory