All Phenotypes Pax2<tm1Mbu> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax2^tm1Mbu/Pax2^tm1Mbu	C3.129P2-Pax2^tm1Mbu	MGI:3694762
ht2	Pax2^tm1Mbu/Pax2^tm2(Pax5)Mbu	C3.129P2-Pax2^tm1Mbu Pax2^tm2(Pax5)Mbu	MGI:3696267
cx3	Pax2^tm1Mbu/Pax2^tm1Mbu Pax8^tm1(cre)Mbu/Pax8^tm1(cre)Mbu	C3.Cg-Pax2^tm1Mbu Pax8^tm1(cre)Mbu	MGI:2651547
cx4	Pax2^tm1Mbu/Pax2⁺ Pax8^tm1(cre)Mbu/Pax8⁺	involves: 129P2/OlaHsd * C3H/He * C57BL/6	MGI:2651548
cx5	Pax2^tm1Mbu/Pax2⁺ Pax8^tm1(cre)Mbu/Pax8^tm1(cre)Mbu	involves: 129P2/OlaHsd * C3H/He * C57BL/6	MGI:5295945

♀	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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax2^tm1Mbu mutation (0 available); any Pax2 mutation (46 available)
Pax2^tm2(Pax5)Mbu mutation (0 available); any Pax2 mutation (46 available)

♀	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 )

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

Allelic Composition	Pax2^tm1Mbu/Pax2^tm1Mbu Pax8^tm1(cre)Mbu/Pax8^tm1(cre)Mbu
Genetic Background	C3.Cg-Pax2^tm1Mbu Pax8^tm1(cre)Mbu

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax2^tm1Mbu mutation (0 available); any Pax2 mutation (46 available)
Pax8^tm1(cre)Mbu mutation (0 available); any Pax8 mutation (32 available)

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

renal/urinary system

abnormal kidney development ( J:80208 )

• extensive apoptosis in pronephros at 25 somite stage

• double mutant embryos fail to form the pronephros or any later nephric structures

Allelic Composition	Pax2^tm1Mbu/Pax2⁺ Pax8^tm1(cre)Mbu/Pax8⁺
Genetic Background	involves: 129P2/OlaHsd * C3H/He * C57BL/6

Find Mice

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

renal/urinary system

decreased renal glomerulus number ( J:80208 )

• at E18.5, glomeruli are reduced in number and abnormally arranged

abnormal metanephric mesenchyme morphology ( J:80208 )

• at E18.5, the uninduced mesenchyme at the cortex and the mesenchymal stroma are increased, indicating inefficient induction of nephric tubules

small metanephros ( J:80208 )

• at E18.5, the metanephros is bilaterally reduced to only ~25% of the size in control littermates

• however, all other components of the urogenital system develop normally

renal hypoplasia ( J:80208 )

decreased nephron number ( J:80208 )

• at E18.5, nephric tubules are reduced in number and abnormally arranged

• however, remaining nephrons are functional as mice survive to >18 months of age

reproductive system

vagina atresia ( J:80208 )

blind vagina ( J:80208 )

• Background Sensitivity: 100% penetrance on C57BL/6 x 129/Sv background; 43% penetrance on C3H background

• minor malformations are still observed in open vaginas

reduced male fertility ( J:80208 )

• a significant proportion of males fail to give produce any progeny; likely due to ductal obstruction of the genital tracts rather than a defect in sperm formation

Allelic Composition	Pax2^tm1Mbu/Pax2⁺ Pax8^tm1(cre)Mbu/Pax8^tm1(cre)Mbu
Genetic Background	involves: 129P2/OlaHsd * C3H/He * C57BL/6

Find Mice

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

renal/urinary system

absent metanephros ( J:80208 )

• mutant embryos fail to form a metanephros

• however, the adrenal gland, testis, and bladder develop normally

absent ureter ( J:80208 )

reproductive system

absent vas deferens ( J:80208 )

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