Phenotypes associated with this allele

• Allele Symbol: Pax8^tm1(cre)Mbu
• Allele Name: targeted mutation 1, Meinrad Busslinger
• Allele ID: MGI:2445461
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax8^tm1(cre)Mbu/Pax8^tm1(cre)Mbu	involves: 129P2/OlaHsd * C3H/He * C57BL/6	MGI:2651448
cx2	Pax2^tm1Mbu/Pax2^tm1Mbu Pax8^tm1(cre)Mbu/Pax8^tm1(cre)Mbu	C3.Cg-Pax2^tm1Mbu Pax8^tm1(cre)Mbu	MGI:2651547
cx3	Pax2^tm1Mbu/Pax2^+ Pax8^tm1(cre)Mbu/Pax8^tm1(cre)Mbu	involves: 129P2/OlaHsd * C3H/He * C57BL/6	MGI:5295945
cx4	Pax2^tm1Mbu/Pax2^+ Pax8^tm1(cre)Mbu/Pax8^+	involves: 129P2/OlaHsd * C3H/He * C57BL/6	MGI:2651548

Genotype
MGI:2651448

hm1

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

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

mortality/aging

lethality at weaning, complete penetrance ( J:80208 )

• animals died at weaning age

endocrine/exocrine glands

absent thyroid gland ( J:80208 )

growth/size/body

postnatal growth retardation ( J:80208 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital hypothyroidism		DOID:0050328	OMIM:PS275200	J:80208

Genotype
MGI:2651547

cx2

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

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

Genotype
MGI:5295945

cx3

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

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 )

♂

Genotype
MGI:2651548

cx4

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

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