Phenotypes Associated with This Genotype

Genotype
MGI:3696267

• Allelic Composition: Pax2^tm1Mbu/Pax2^tm2(Pax5)Mbu
• Genetic Background: C3.129P2-Pax2^tm1Mbu Pax2^tm2(Pax5)Mbu

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

renal/urinary system

abnormal kidney development ( J:63683 )

• at E18.5, compound heterozygotes display a more severely affected kidney development relative to Pax2^tm2(Pax5)Mbu homozygotes

small kidney ( J:63683 )

• at E18.5, the kidney usually forms as only a small remnant

absent kidney ( J:63683 )

• at E18.5, the kidney is often totally absent together with the ureter

absent ureter ( J:63683 )

• at E18.5, the kidney is often totally absent together with the ureter

vision/eye

vision/eye phenotype ( J:63683 )

N • unlike Pax2^tm1Mbu homozygotes, compound heterozygotes show closure of the optic fissure at E18.5 (fully corrected phenotype)

abnormal retina morphology ( J:63683 )

• at E18.5, compound heterozygotes display malformations (scars) in the ventral region of the pigmented retina, similar to Pax2^tm1Mbu homozygotes (partially corrected phenotype)

abnormal retina pigmentation ( J:63683 )

• at E18.5, compound heterozygotes display cells of the pigmented retina abnormally extending into the optic nerve, though these numbers are drastically reduced relative to Pax2^tm1Mbu homozygotes (partially corrected phenotype)

hearing/vestibular/ear

abnormal cochlea morphology ( J:63683 )

• at E18.5, the cochlear canal is wider and significantly reduced in length, although the organ of Corti develops normally

abnormal otolith organ morphology ( J:63683 )

• at E18.5, the saccule and utricle are fused and enlarged at the expense of the cochlea

• this phenotype is intermediate between the normal morphology of Pax2^tm2(Pax5)Mbu homozygotes and the severe phenotype of Pax2^tm1Mbu homozygotes

pigmentation

abnormal retina pigmentation ( J:63683 )

• at E18.5, compound heterozygotes display cells of the pigmented retina abnormally extending into the optic nerve, though these numbers are drastically reduced relative to Pax2^tm1Mbu homozygotes (partially corrected phenotype)

reproductive system

reproductive system phenotype ( J:63683 )

N • at E18.5, compound heterozygotes display normal male and genital tract development, unlike Pax2^tm1Mbu homozygotes, which lack the entire genital tracts