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Phenotypes Associated with This Genotype
Genotype
MGI:5763143
Allelic
Composition
Ap1g1fgt/Ap1g1fgt
Genetic
Background
C57BL/6-Ap1g1fgt/KjnBoc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ap1g1fgt mutation (1 available); any Ap1g1 mutation (45 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• Background Sensitivity: although only approximately 70 of homozygotes on mixed C57BL/6J x C3HeB/FeJ background display head tossing and circling, it is higher on the pure C57BL/6J background
• Background Sensitivity: although only approximately 70 of homozygotes on mixed C57BL/6J x C3HeB/FeJ background display head tossing and circling, it is higher on the pure C57BL/6J background

endocrine/exocrine glands
• at 16 weeks of age only a few normal follicles are found, there are highly proliferating epithelial cells that give rise to goiters, and the T4 levels are significantly lower than normal especially at younger ages

vision/eye
• fluorescein angiography shows choroidal neovacularization with leakage, and newly formed vessels are evident by histology at 6 and 16 weeks of age, although retonograms show normal amplitudes at 16 weeks of age
• retina degeneration in older homozygotes
• scattered depigmented spots are found by 6 weeks of age and large depigmented areas are found by 16 weeks of age

hearing/vestibular/ear
• inner and outer hair cells are normal at 1 month of age, but by 5 weeks of age some outer hair cells are missing stereocilia bundles and this is greater near the apex and base of the cochlea than the mid-region
• at 1 month of age the cochlear structures are fairly normal, but by 3 months of age the organ of Corti is completely degenerated
• cross-sectional analysis of the crista ampullaris shows loss of vestibular hair cells
• by 1 month of age ABR thresholds are approximately 40 dB higher at all frequencies, and by 6 months of age there is no detectable ABR even at 100 dB

growth/size/body
• females and, to a lesser degree, males have a lower body weight as assessed between 4 and 6 weeks of age

reproductive system
• approximately 30 to 50% of mature spermatozoa have tails that are bent at the mid-piece
• although all meiotic stages are present in the seminiferous tubules, the number of maturing sperm cells is reduced in homozygotes by approximately 40%

homeostasis/metabolism

nervous system
• inner and outer hair cells are normal at 1 month of age, but by 5 weeks of age some outer hair cells are missing stereocilia bundles and this is greater near the apex and base of the cochlea than the mid-region
• cross-sectional analysis of the crista ampullaris shows loss of vestibular hair cells

cellular
• approximately 30 to 50% of mature spermatozoa have tails that are bent at the mid-piece
• although all meiotic stages are present in the seminiferous tubules, the number of maturing sperm cells is reduced in homozygotes by approximately 40%

cardiovascular system
• fluorescein angiography shows choroidal neovacularization with leakage, and newly formed vessels are evident by histology at 6 and 16 weeks of age, although retonograms show normal amplitudes at 16 weeks of age


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
03/18/2025
MGI 6.24
The Jackson Laboratory