Phenotypes Associated with This Genotype

Genotype
MGI:4949537

• Allelic Composition: Agps^bs2/Agps^bs2
• Genetic Background: STOCK Agps^bs2/J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

preweaning lethality, incomplete penetrance ( J:171265 )

• some prenatal or perinatal lethality

reproductive system

azoospermia ( J:171265 )

♂ • mature spermatozoa or elongating spermatids are absent unlike in wild-type mice

abnormal seminiferous tubule morphology ( J:171265 )

♂ • mice exhibit abnormal seminiferous tubules with multinucleate cells within the lumen compared with wild-type mice

small testis ( J:171265 )

♂

male infertility ( J:156373 , J:171265 )

♂ (J:156373)

♂ (J:171265)

vision/eye

abnormal lens morphology ( J:171265 )

• mice exhibit bladder cells and liquefied lens material within the cortex and morganian globules at the posterior poles unlike in wild-type mice

abnormal lens fiber morphology ( J:171265 )

• fiber cells in the bow region are smaller in size mice and detached from the epithelium compared to in wild-type mice

disorganized secondary lens fibers ( J:171265 )

cataract ( J:156373 , J:171265 )

microphthalmia ( J:156373 , J:171265 )

homeostasis/metabolism

abnormal lipid level ( J:171265 )

• mice exhibit reduced brain phosphatidylethanolamine (PE), ether-phosphatidyl ethanolamine (ePE), and ether-phosphatidyl choline (ePC) levels compared with wild-type mice

• however, levels of phosphatidylcholine (PC) are normal

endocrine/exocrine glands

abnormal seminiferous tubule morphology ( J:171265 )

♂ • mice exhibit abnormal seminiferous tubules with multinucleate cells within the lumen compared with wild-type mice

small testis ( J:171265 )

♂

cellular

azoospermia ( J:171265 )

♂ • mature spermatozoa or elongating spermatids are absent unlike in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
rhizomelic chondrodysplasia punctata type 3		DOID:0110853	OMIM:600121	J:171265