Phenotypes Associated with This Genotype

Genotype
MGI:3694762

• Allelic Composition: Pax2^tm1Mbu/Pax2^tm1Mbu
• Genetic Background: C3.129P2-Pax2^tm1Mbu

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

mortality/aging

perinatal lethality, complete penetrance ( J:63683 )

• homozygotes die perinatally due to complete absence of gential tracts and kidneys

renal/urinary system

absent kidney ( J:63683 )

• at E18.5, homozygotes lack both kidneys

absent ureter ( J:63683 )

• at E18.5, homozygotes lack both ureters

reproductive system

absent seminal vesicle ( J:63683 )

♂ • at E18.5, male homozygotes lack seminal vesicles

absent oviduct ( J:63683 )

♀ • at E18.5, female homozygotes lack oviducts

absent uterus ( J:63683 )

♀ • at E18.5, female homozygotes lack a uterus

absent vagina ( J:63683 )

♀ • at E18.5, female homozygotes lack a vagina

absent epididymis ( J:63683 )

♂ • at E18.5, male homozygotes lack an epididymis

absent vas deferens ( J:63683 )

♂ • at E18.5, male homozygotes lack a vas deferens

nervous system

abnormal brain development ( J:63683 )

absent midbrain-hindbrain boundary ( J:63683 )

• at E12.5, the isthmic constriction at the midbrain-hindbrain boundary is missing

• at E18.5, the midbrain-hindbrain boundary is missing

abnormal brain commissure morphology ( J:63683 )

• at E18.5, the posterior commissure is shifted caudally

abnormal midbrain morphology ( J:63683 )

• homozygotes fail to develop a posterior midbrain

absent tectum ( J:63683 )

• at E18.5, the midbrain tectum is missing

absent cerebellum ( J:63683 )

• homozygotes fail to develop a cerebellum

absent cochlear ganglion ( J:63683 )

hearing/vestibular/ear

abnormal inner ear morphology ( J:63683 )

• at E18.5, homozygotes lack a cochlea and contain one enlarged chamber at the ventral side instead of the utricle and saccule

• however, the dorsal vestibular region (including the semicircular canals) is largely normal

absent cochlea ( J:63683 )

• at E18.5, the cochlea is entirely absent

abnormal otolith organ morphology ( J:63683 )

• at E18.5, the saccule and utricle are fused, forming a single enlarged chamber

absent vestibular saccule ( J:63683 )

vision/eye

abnormal optic fissure closure ( J:63683 )

• at E18.5, homozygotes fail to close the optic fissure

abnormal retina morphology ( J:63683 )

• at E18.5, homozygotes exhibit malformations (scars) in the ventral retina

abnormal retina pigmentation ( J:63683 )

• at E18.5, cells of the pigmented retina abnormally extend into the optic stalk and nerve

pigmentation

abnormal retina pigmentation ( J:63683 )

• at E18.5, cells of the pigmented retina abnormally extend into the optic stalk and nerve

endocrine/exocrine glands

absent seminal vesicle ( J:63683 )

♂ • at E18.5, male homozygotes lack seminal vesicles

embryo

Mullerian duct degeneration ( J:63683 )

• Mullerian ducts initially form in the anterior region of the genital ridge but subsequently degenerate

Wolffian duct degeneration ( J:63683 )

• Wolffian ducts initially form in the anterior region of the genital ridge but subsequently degenerate