About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:5295270
Allelic
Composition
Spef2bgh/Spef2bgh
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J * C57BL/10J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spef2bgh mutation (1 available); any Spef2 mutation (60 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• Background Sensitivity: mice exhibit no early mortality unlike on a background lacking 129S6/SvEvTac

reproductive system
N
• female mice are fertile
• mice exhibit a reduction in the number of elongating spermatids in the stage II-V tubules
• however, acrosome formation is normal
• short and disorganized
• mitochondria are either absent from the sperm tail or are highly disorganized
• fibrous sheath formation is defective
• very few mature sperm are present in the cauda epididymis

respiratory system
• the beat frequency of tracheal epithelial cilia is less than in wild-type mice

nervous system
N
• Background Sensitivity: mice do not exhibit evidence of gross hydrocephalus unlike on a background lacking 129S6/SvEvTac

immune system

cellular
• short and disorganized
• mitochondria are either absent from the sperm tail or are highly disorganized
• fibrous sheath formation is defective
• very few mature sperm are present in the cauda epididymis
• the beat frequency of tracheal epithelial cilia is less than in wild-type mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
primary ciliary dyskinesia DOID:9562 OMIM:PS244400
J:176695


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 & Copyright Notice
Send questions and comments to User Support.
last database update
09/22/2022
MGI 6.21
The Jackson Laboratory