Phenotypes associated with this allele

• Allele Symbol: Pax2^tm2(Pax5)Mbu
• Allele Name: targeted mutation 2, Meinrad Busslinger
• Allele ID: MGI:1926937
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax2^tm2(Pax5)Mbu/Pax2^tm2(Pax5)Mbu	C3.129P2-Pax2^tm2(Pax5)Mbu	MGI:3694761
ht2	Pax2^tm1Mbu/Pax2^tm2(Pax5)Mbu	C3.129P2-Pax2^tm1Mbu Pax2^tm2(Pax5)Mbu	MGI:3696267

Genotype
MGI:3694761

hm1

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

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

mortality/aging

perinatal lethality, complete penetrance ( J:63683 )

• all homozygotes die perinatally due to renal failure

renal/urinary system

renal/urinary system phenotype ( J:63683 )

N • unlike Pax2^tm1Mbu homozygotes, which invariably lack both ureters, Pax2^tm2(Pax5)Mbu homozygotes form normal ureters

increased kidney apoptosis ( J:63683 )

• reduced kidney size is associated with increased cell death by apoptosis at E14.5

abnormal kidney development ( J:63683 )

small kidney ( J:63683 )

• at E18.5, mutant kidney size is only 10-30% that of wild-type size

renal hypoplasia ( J:63683 )

• at E18.5, homozygotes display renal hypoplasia, unlike Pax2^tm1Mbu homozygotes which lack both kidneys

kidney failure ( J:63683 )

• homozygotes die of renal failure

vision/eye

vision/eye phenotype ( J:63683 )

N • unlike Pax2^tm1Mbu homozygotes, all Pax2^tm2(Pax5)Mbu homozygotes show closure of the optic fissure at E18.5 (fully corrected phenotype)

N • in addition, abnormal extension of pigmented retina cells into the optic stalk is nearly abolished in Pax2^tm2(Pax5)Mbu homozygotes relative to Pax2^tm1Mbu homozygotes

abnormal retina morphology ( J:63683 )

• at E18.5, Pax2^tm2(Pax5)Mbu homozygotes display malformations (scars) in the ventral region of the pigmented retina, similar to Pax2^tm1Mbu homozygotes (partially corrected phenotype)

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:63683 )

N • in contrast to Pax2^tm1Mbu homozygotes, which show complete fusion of the utricle and saccule and absence of a cochlea, E18.5 Pax2^tm2(Pax5)Mbu homozygotes display a fully rescued inner ear morphology in all aspects

nervous system

nervous system phenotype ( J:63683 )

N • in contrast to Pax2^tm1Mbu homozygotes, where the posterior commissure is shifted caudally and the midbrain-hindbrain boundary (MHB) is missing resulting in absence of a posterior midbrain and cerebellum, E12.5 and E18.5 Pax2^tm2(Pax5)Mbu homozygotes show a fully rescued midbrain and cerebellum development in all aspects

reproductive system

reproductive system phenotype ( J:63683 )

N • unlike Pax2^tm1Mbu homozygotes, which lack the entire genital tracts in both sexes, Pax2^tm2(Pax5)Mbu homozygotes normal development of the epididymis, vas deferens and seminal vesicles in males, and of the oviduct, uterus and vagina in females

cellular

increased kidney apoptosis ( J:63683 )

• reduced kidney size is associated with increased cell death by apoptosis at E14.5

Genotype
MGI:3696267

ht2

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

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