All Phenotypes Pax2<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Pax2⁺
wild type
MGI:1858001

Summary

18 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Pax2^M1Bpb/Pax2⁺	C57BL/6-Pax2^M1Bpb	MGI:4442633
ht2	Pax2^1Neu/Pax2⁺	involves: 102	MGI:3841057
ht3	Pax2^1Neu/Pax2⁺	involves: 102 * C3H	MGI:3841028
ht4	Pax2^1Neu/Pax2⁺	involves: 102 * C57BL/6	MGI:3841044
ht5	Pax2^1Neu/Pax2⁺	involves: 102 * CD-1	MGI:5442586
ht6	Pax2^tm1Pgr/Pax2⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:3694692
ht7	Pax2^tm1Pgr/Pax2⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3714949
ht8	Pax2^tm1Pgr/Pax2⁺	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ	MGI:5295935
ht9	Pax2^tm1Pgr/Pax2⁺	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3714953
ht10	Pax2^Opdc/Pax2⁺	involves: BALB/cAnN * C3H/HeN	MGI:2687016
ht11	Pax2^M1Bpb/Pax2⁺	involves: C3H/HeJ * C57BL/6	MGI:4442634
cx12	Pax2^1Neu/Pax2⁺ Wt1^tm1Jae/Wt1⁺	involves: 102 * 129S4/SvJae * C57BL/6	MGI:3841045
cx13	Pax2^1Neu/Pax2⁺ Tg(Hoxb7-EGFP)33Cos/?	involves: 102 * C57BL/6 * CBA * CD-1	MGI:5442587
cx14	Pax2^tm1Mbu/Pax2⁺ Pax8^tm1(cre)Mbu/Pax8⁺	involves: 129P2/OlaHsd * C3H/He * C57BL/6	MGI:2651548
cx15	Pax2^tm1Mbu/Pax2⁺ Pax8^tm1(cre)Mbu/Pax8^tm1(cre)Mbu	involves: 129P2/OlaHsd * C3H/He * C57BL/6	MGI:5295945
cx16	Eya1^tm1Rilm/Eya1⁺ Pax2^tm1Pgr/Pax2⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3715118
cx17	Pax2^tm1Pgr/Pax2⁺ Ret^tm1Cos/Ret⁺	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ	MGI:5295884
cx18	Eya1^tm1Rilm/Eya1⁺ Pax2^tm1Pgr/Pax2⁺ Six1^tm1Mair/Six1⁺	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3715233

Allelic Composition	Pax2^M1Bpb/Pax2⁺
Genetic Background	C57BL/6-Pax2^M1Bpb

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax2^M1Bpb mutation (0 available); any Pax2 mutation (47 available)

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

Ocular abnormalities in Pax2^M1Bpb/Pax2⁺ mice

vision/eye

abnormal optic nerve morphology ( J:159240 )

• mice exhibit excavation of the optic nerve head with prepapillary pigment changes unlike wild-type mice

• Background Sensitivity: mice exhibit increased penetrance of optic nerve phenotype compared to mice on a mixed C3H/HeJ and C57BL/6 background

abnormal optic disk morphology ( J:159240 )

• mice exhibit excavation of the optic nerve head with prepapillary pigment changes unlike wild-type mice

abnormal eye development ( J:159240 )

• at E13.5, mice exhibit a delay in the formation of the tunica vasculosis lentis compared with wild-type mice

• mice exhibit variable, incomplete regression of the tunica vasculosis lentis compared with wild-type mice

abnormal retina morphology ( J:159240 )

• mice exhibit retinal rosettes unlike wild-type mice

abnormal retina blood vessel morphology ( J:159240 )

• mice exhibit the absence of a central retinal arterial trunk unlike wild-type mice

abnormal retina blood vessel pattern ( J:159240 )

abnormal retina pigment epithelium morphology ( J:159240 )

• mice exhibit a mild extension of the retinal pigment epithelium beyond the borders of the optic disc unlike in wild-type mice

renal/urinary system

kidney cyst ( J:159240 )

• 1 in 16 mice exhibit bilateral kidney cysts with hydronephrosis and hydroureter unlike wild-type mice

hydronephrosis ( J:159240 )

• 1 in 16 mice exhibit bilateral kidney cysts with hydronephrosis and hydroureter unlike wild-type mice

renal hypoplasia ( J:159240 )

• in 1 of 16 mice with contralateral double papilla

• in 1 of 16 mice with occasional focal cystic glomeruli

abnormal renal tubule morphology ( J:159240 )

• 7 mice exhibit bilateral, rare to occasional degeneration compared with only 1 aged wild-type mouse

hydroureter ( J:159240 )

• 1 in 16 mice exhibit bilateral kidney cysts with hydronephrosis and hydroureter unlike wild-type mice

nervous system

abnormal midbrain-hindbrain boundary morphology ( J:159240 )

• in 5 of 36 mice at E10.5 to E12.5, the midbrain-hindbrain region is mildly flattened compared to in wild-type mice

abnormal optic nerve morphology ( J:159240 )

• mice exhibit excavation of the optic nerve head with prepapillary pigment changes unlike wild-type mice

• Background Sensitivity: mice exhibit increased penetrance of optic nerve phenotype compared to mice on a mixed C3H/HeJ and C57BL/6 background

abnormal optic disk morphology ( J:159240 )

• mice exhibit excavation of the optic nerve head with prepapillary pigment changes unlike wild-type mice

cardiovascular system

abnormal retina blood vessel morphology ( J:159240 )

• mice exhibit the absence of a central retinal arterial trunk unlike wild-type mice

abnormal retina blood vessel pattern ( J:159240 )

pigmentation

abnormal retina pigment epithelium morphology ( J:159240 )

• mice exhibit a mild extension of the retinal pigment epithelium beyond the borders of the optic disc unlike in wild-type mice

growth/size/body

kidney cyst ( J:159240 )

• 1 in 16 mice exhibit bilateral kidney cysts with hydronephrosis and hydroureter unlike wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
renal coloboma syndrome		DOID:0090006	OMIM:120330	J:159240

Allelic Composition	Pax2^1Neu/Pax2⁺
Genetic Background	involves: 102

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax2^1Neu mutation (1 available); any Pax2 mutation (47 available)

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

endocrine/exocrine glands

increased pancreatic beta cell mass ( J:89465 )

increased pancreatic islet number ( J:89465 )

pancreatic islet hyperplasia ( J:89465 )

• the volume islet cells occupy in the pancreas is increased 2-fold compared to in wild-type mice

• islet cell size is increased 1.4-fold compared to in wild-type mice

renal/urinary system

increased kidney apoptosis ( J:136502 )

• cisplatin-exposed kidney explants exhibit a 50% increase in apoptosis compared to wild-type cells

cellular

increased kidney apoptosis ( J:136502 )

• cisplatin-exposed kidney explants exhibit a 50% increase in apoptosis compared to wild-type cells

Allelic Composition	Pax2^1Neu/Pax2⁺
Genetic Background	involves: 102 * C3H

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax2^1Neu mutation (1 available); any Pax2 mutation (47 available)

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

vision/eye

abnormal retina vasculature morphology ( J:37055 )

abnormal optic disk morphology ( J:37055 )

• the optic disk is abnormally broad and cup-shaped compared to in wild-type mice

abnormal retina layer morphology ( J:37055 )

• inner retinal layers are thinner than normal

abnormal retina neuronal layer morphology ( J:37055 )

• all neural layers are thinner than in wild-type mice

decreased retina ganglion cell number ( J:37055 )

thin retina ganglion layer ( J:37055 )

abnormal retina nerve fiber layer morphology ( J:37055 )

• thin

renal/urinary system

kidney cyst ( J:37055 )

• in some mice

small kidney ( J:37055 )

• in some mice

single kidney ( J:37055 )

• in 3 in 50 mice

nervous system

decreased retina ganglion cell number ( J:37055 )

abnormal optic disk morphology ( J:37055 )

• the optic disk is abnormally broad and cup-shaped compared to in wild-type mice

cardiovascular system

abnormal retina vasculature morphology ( J:37055 )

growth/size/body

kidney cyst ( J:37055 )

• in some mice

Allelic Composition	Pax2^1Neu/Pax2⁺
Genetic Background	involves: 102 * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax2^1Neu mutation (1 available); any Pax2 mutation (47 available)

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:86661 )

• fewer than expected mice are observed at E16

postnatal lethality, incomplete penetrance ( J:86661 )

• 23% fewer than expected mice survive beyond weaning

renal/urinary system

increased kidney apoptosis ( J:59408 , J:86661 )

• at E15-E16, a significant increase in apoptosis (as assessed by TUNEL assay) is noted in the collecting ducts and renal pelvis, as well as in the renal cortex (mostly in ureteric buds); not seen in total kidneys of E18, newborns or P1-P6 pups (J:59408)

• however, increased apoptosis is not observed in glomeruli, or proximal or distal tubules at either E15-16 or later in development (J:59408)

• also, the rate of kidney cell proliferation remains normal from E15 to P6 (J:59408)

• at E16, whole kidney apoptosis is increased compared to in wild-type mice (J:86661)

kidney cyst ( J:59408 )

• ~1% of fetuses show cystic renal abnormalities

decreased renal glomerulus number ( J:59408 , J:86661 )

• at E15-E16, the number of mature glomeruli is only 20% of that in wild-type controls (J:59408)

• compared to in wild-type mice (J:86661)

abnormal kidney development ( J:86661 )

• at E16 and E19, mice exhibit abnormal kidney development that is less severe than in Pax2^1Neu Wt1^tm1Jae heterozygotes

• however, kidney development at E13 is normal

abnormal nephrogenic zone morphology ( J:59408 )

• at E15-E16, the nephrogenic zone is thin and exhibits fewer nephrons, a primitive medulla, a reduced number of mesenchymal condensates and ureteric bud branches, and lacks mature glomeruli, unlike in wild-type controls

• the number of early epithelial structures derived from induced metanephric mesenchyme (vesicles, comma- and S-shaped bodies) is reduced to 30%-40% of wild-type controls

• however, early tubular structures and glomeruli are of normal size and morphology

kidney medulla hypoplasia ( J:59408 )

• at E15, a primitive medulla is observed, unlike the maturing medullary core seen in wild-type controls

small kidney ( J:59408 , J:86661 )

• at E15, the largest heterozygous mutant kidneys overlap in size with the smallest kidneys from wild-type controls (J:59408)

• reduced by 20% (J:86661)

renal hypoplasia ( J:59408 )

• at E15, ~60% of fetuses have hypoplastic kidneys with a maximal cross-sectional surface area ranging from 30% to 75% of that in wild-type controls

decreased nephron number ( J:59408 , J:86661 )

• at E15-E16, fewer nephrons are observed (J:59408)

• at E15, the number of early nephron structures is ~47% of that in wild-type controls (J:59408)

• kidneys contain fewer nephrons, including fewer mesenchymal condensates, comma-shaped bodies and S-shaped bodies, compared to in wild-type kidneys (J:86661)

absent kidney ( J:86661 )

• in 6% of mice

single kidney ( J:59408 )

• ~1% of fetuses show unilateral renal agenesis

impaired branching involved in ureteric bud morphogenesis ( J:59408 )

• at E15, a reduced number of ureteric bud branches is observed relative to wild-type controls

cellular

increased kidney apoptosis ( J:59408 , J:86661 )

• however, increased apoptosis is not observed in glomeruli, or proximal or distal tubules at either E15-16 or later in development (J:59408)

• also, the rate of kidney cell proliferation remains normal from E15 to P6 (J:59408)

• at E16, whole kidney apoptosis is increased compared to in wild-type mice (J:86661)

growth/size/body

kidney cyst ( J:59408 )

• ~1% of fetuses show cystic renal abnormalities

Allelic Composition	Pax2^1Neu/Pax2⁺
Genetic Background	involves: 102 * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax2^1Neu mutation (1 available); any Pax2 mutation (47 available)

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

renal/urinary system

small kidney ( J:145105 )

• at P1, heterozygous kidneys are significantly smaller than wild-type

abnormal ureter morphology ( J:145105 )

• at E11-E17 and occasionally at P1, 27.6% of heterozygotes display hydroureters as well as bifid ureters and duplicated urinary tracts

• at P1, both left and right intravesical ureters (portion of ureter within the bladder wall) are significantly shorter than in wild-type controls

bifid ureter ( J:145105 )

• at P1, a bifid ureter with an abnormal cystic lower renal pole is sometimes observed

dilated ureter ( J:145105 )

• at P1, refluxing ureters are dilated but histologically normal

• the smooth muscle layer is intact and all ureteral layers appear grossly normal

double ureter ( J:145105 )

• duplicated ureters are sometimes observed

hydroureter ( J:145105 )

ectopic ureteric bud ( J:145105 )

• at E10.5, a more caudally positioned ureteric bud is observed relative to that in wild-type controls

• the distance from the end of the mesonephric duct to the edge of the ureteric bud is significantly shorter than in wild-type controls

• however, double ureteric buds are never seen

vesicoureteral reflux ( J:145105 )

• at P1, 31.4% of heterozygotes exhibit vesicoureteral reflux (VUR) relative to 6.25% of wild-type controls, as identified by the retrograde passage of methylene blue dye to the ureters

• both unilateral and bilateral VUR is seen; however, left-sided VUR is more frequently observed

• at P1, 45% of heterozygous males show VUR relative to only 12% of heterozygous females

• in one mouse with a duplicated urinary tract, VUR is found in both ureters extending to the upper and lower pole of the duplex kidney

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
renal coloboma syndrome		DOID:0090006	OMIM:120330	J:145105

Allelic Composition	Pax2^tm1Pgr/Pax2⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax2^tm1Pgr mutation (1 available); any Pax2 mutation (47 available)

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

renal/urinary system

kidney cortex hypoplasia ( J:30343 )

• at E17.0, heterozygotes frequently display a thinner cortical region

abnormal kidney calyx morphology ( J:30343 )

• heterozygous kidneys are frequently hypoplastic due to calyx reduction

small kidney ( J:30343 )

• at E17.5, heterozygotes display a reduced kidney size, ranging form 1/10 of normal size to wild-type size

renal hypoplasia ( J:30343 )

• heterozygotes frequently develop renal hypoplasia, mainly due to reduced calyces and upper part of the ureters, suggesting defects in ureter branching and/or cell proliferation

decreased nephron number ( J:30343 )

• heterozygotes frequently display a reduced number of developing nephrons

nervous system

exencephaly ( J:36834 )

• Background Sensitivity: in heterozygotes, incidence of exencephaly is 11 of 59 cases in a 129/Sv x NMRI mixed background, 1 of 29 in a 129/Sv x C57BL/6 mixed background, 2 of 11 in a 129/Sv x C3H mixed background, and none out of 14 in a 129/Sv inbred background

• heterozygous embryos exhibit exencephaly with a low penetrance and in a background-dependent fashion

optic nerve coloboma ( J:36834 )

• some heterozygotes exhibit optic nerve coloboma

vision/eye

optic nerve coloboma ( J:36834 )

• some heterozygotes exhibit optic nerve coloboma

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:36834 )

N	• exencephalic heterozygotes do NOT display overt abnormalities in inner ear development

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
renal coloboma syndrome		DOID:0090006	OMIM:120330	J:36834

Allelic Composition	Pax2^tm1Pgr/Pax2⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax2^tm1Pgr mutation (1 available); any Pax2 mutation (47 available)

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

hearing/vestibular/ear

abnormal inner ear morphology ( J:119574 )

• at E17.5, 13 of 24 heterozygous mutant inner ears (7 of 12 embryos) display a slight reduction in their overall volume with thinner ducts

• however, all heterozygotes show normal inner ear gross structures

abnormal cochlea morphology ( J:119574 )

• at E17.5, 6 of 24 heterozygous mutant inner ears (4 of 12 embryos) exhibit slightly shortened cochlea but complete 1.5 turns

decreased cochlea coiling ( J:119574 )

• at E17.5, 16 of 24 heterozygous mutant cochleae (9 of 12 embryos) coil between 1.5 and 1.75 turns, 3 of 24 (2 embryos) coil between 1.25 and 1.5 turns, and 2 of 24 (2 embryos) coil between 1.0 and 1.25 turns; no less than 1.0 turns are observed

Allelic Composition	Pax2^tm1Pgr/Pax2⁺
Genetic Background	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax2^tm1Pgr mutation (1 available); any Pax2 mutation (47 available)

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

renal/urinary system

decreased renal glomerulus number ( J:117753 )

• at P15, heterozygotes display a reduced mean glomerular density (5.79 glomeruli per unit area) relative to wild-type (8.95 glomeruli per unit area) and single Ret^tm1Cos heterozygous (7.25 glomeruli per unit area) in littermates

renal hypoplasia ( J:117753 )

• at P15, heterozygotes show a significantly reduced kidney to body mass ratio (0.56%) relative to wild-type (0.75%) and single Ret^tm1Cos heterozygous (0.75%) littermates

• at E18.5, heterozygotes show a significantly reduced kidney to body mass ratio (0.26%) relative to wild-type (0.42%) and single Ret^tm1Cos heterozygous (0.45%) littermates

Allelic Composition	Pax2^tm1Pgr/Pax2⁺
Genetic Background	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax2^tm1Pgr mutation (1 available); any Pax2 mutation (47 available)

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

hearing/vestibular/ear

abnormal inner ear morphology ( J:119574 )

• at E17.5, 11 of 20 double heterozygous mutant inner ears (6 of 10 embryos) display a slight reduction in their overall volume relative to control mice

• however, all double heterozygotes show normal inner ear gross structures

abnormal cochlea morphology ( J:119574 )

• at E17.5, 10 of 20 double heterozygous mutant inner ears (6 of 10 embryos) display a slightly shortened cochlea but reach 1.5 turns

decreased cochlea coiling ( J:119574 )

• at E17.5, only 1 of 20 heterozygous mutant cochleas (1 of 10 embryos) coils between 1 and 1.25 turns whereas 10 of 20 cochleas (6 of 10 embryos) coil between 1.5 and 1.75 turns

Allelic Composition	Pax2^Opdc/Pax2⁺
Genetic Background	involves: BALB/cAnN * C3H/HeN

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax2^Opdc mutation (2 available); any Pax2 mutation (47 available)

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

vision/eye

abnormal eye morphology ( J:75964 )

abnormal optic nerve morphology ( J:75964 )

• optic discs are described as enlarged and excavated

optic disk coloboma ( J:75964 )

• mice exhibit bilateral colobomas of the optic disc

nervous system

abnormal optic nerve morphology ( J:75964 )

• optic discs are described as enlarged and excavated

optic disk coloboma ( J:75964 )

• mice exhibit bilateral colobomas of the optic disc

Allelic Composition	Pax2^M1Bpb/Pax2⁺
Genetic Background	involves: C3H/HeJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax2^M1Bpb mutation (0 available); any Pax2 mutation (47 available)

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

nervous system

abnormal optic nerve morphology ( J:159240 )

• Background Sensitivity: mice exhibit reduced penetrance of optic nerve phenotype compared to mice on a congenic C57BL/6 background

vision/eye

abnormal optic nerve morphology ( J:159240 )

• Background Sensitivity: mice exhibit reduced penetrance of optic nerve phenotype compared to mice on a congenic C57BL/6 background

Allelic Composition	Pax2^1Neu/Pax2⁺ Wt1^tm1Jae/Wt1⁺
Genetic Background	involves: 102 * 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax2^1Neu mutation (1 available); any Pax2 mutation (47 available)
Wt1^tm1Jae mutation (3 available); any Wt1 mutation (34 available)

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:86661 )

• fewer than expected mice are observed at E16

postnatal lethality, incomplete penetrance ( J:86661 )

• 49% fewer than expected mice survive beyond weaning compared

renal/urinary system

increased kidney apoptosis ( J:86661 )

• at E16, whole kidney apoptosis is increased compared to in wild-type mice

abnormal kidney collecting duct morphology ( J:86661 )

• the volume of collecting ducts is reduced compared to in wild-type mice

decreased renal glomerulus number ( J:86661 )

• compared to in Pax2^1Neu heterozygotes and wild-type mice

abnormal kidney development ( J:86661 )

• at E16 and E19, mice exhibit abnormal kidney development that is more severe than in Pax2^1Neu heterozygotes

• however, kidney development at E13 is normal

kidney medulla hypoplasia ( J:86661 )

abnormal kidney calyx morphology ( J:86661 )

• renal calyces are reduced in size and number compared to in wild-type mice

small kidney ( J:86661 )

• the left kidney is 48% smaller than normal while the right kidney is 58% smaller than normal

decreased nephron number ( J:86661 )

• kidneys contain fewer than normal nephrons with fewer mesenchymal condensates, comma-shaped bodies, and S-shaped bodies and looser mesenchyme adjacent to ureteric bud structures compared to in wild-type kidneys

absent kidney ( J:86661 )

• in 20% of mice

cellular

increased kidney apoptosis ( J:86661 )

• at E16, whole kidney apoptosis is increased compared to in wild-type mice

Allelic Composition	Pax2^1Neu/Pax2⁺ Tg(Hoxb7-EGFP)33Cos/?
Genetic Background	involves: 102 * C57BL/6 * CBA * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax2^1Neu mutation (1 available); any Pax2 mutation (47 available)
Tg(Hoxb7-EGFP)33Cos mutation (3 available)

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

renal/urinary system

duplex kidney ( J:145105 )

abnormal ureter development ( J:145105 )

• at E12.25, only 12.5% of ureters have begun to separate from their corresponding mesonephric ducts relative to 70% of wild-type ureters, indicating a delay in ureter maturation

• at E14, 25% of ureters remain attached to the mesonephric duct relative to 6.25% of wild-type controls

• at E17, all ureters have independent openings into the bladder; however, their entry is at a less oblique angle relative to that in wild-type controls

• at E17, only 18% of embryos have ureters that enter the bladder at an oblique angle relative to 69% of wild-type controls

• no differences in crown-rump lengths are observed, suggesting a urinary tract specific delay

• delay in ureter maturation is not due to a altered apoptosis in the common nephric duct or surrounding tissues at E11

abnormal ureteric bud morphology ( J:145105 )

• at E10.25, some ureteric buds display irregular contours relative to wild-type controls

impaired branching involved in ureteric bud morphogenesis ( J:145105 )

• at E11.25 and E13, reduced ureteric bud branching may be observed in embryos with a duplex collecting system

ectopic ureteric bud ( J:145105 )

• at E10.25, embryos exhibit more caudally positioned ureteric buds relative to wild-type controls

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax2^tm1Mbu mutation (0 available); any Pax2 mutation (47 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

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 )

Allelic Composition	Eya1^tm1Rilm/Eya1⁺ Pax2^tm1Pgr/Pax2⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1^tm1Rilm mutation (1 available); any Eya1 mutation (57 available)
Pax2^tm1Pgr mutation (1 available); any Pax2 mutation (47 available)

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

hearing/vestibular/ear

abnormal cochlea morphology ( J:119574 )

• at E17.5, 4 of 24 double heterozygous mutant inner ears (2 of 12 embryos) display a malformed cochlea with enlarged and mal-shaped distal tips

decreased cochlea coiling ( J:119574 )

• at E17.5, 6 of 24 double heterozygous mutant cochleae (4 of 12 embryos) only reach 1 and 1.25 turns while 12 of 24 cochleae (8 of 12 embryos) coil between 1.5 and 1.75 turns

abnormal semicircular canal morphology ( J:119574 )

decreased lateral semicircular canal size ( J:119574 )

• at E17.5, 5 of 24 double heterozygous mutant inner ears (3 of 12 embryos) display a small lateral semicircular canal

decreased posterior semicircular canal size ( J:119574 )

• at E17.5, 2 of 24 double heterozygous mutant inner ears (1 of 12 embryos) show absence of the posterior ampullae and truncation of the posterior semicircular canals

• at E17.5, 5 of 24 double heterozygous mutant inner ears (3 of 12 embryos) display a small posterior semicircular canal

abnormal semicircular canal ampulla morphology ( J:119574 )

• at E17.5, 18 of 24 double heterozygous mutant inner ears (10 of 12 embryos) display significantly smaller or morphologically unidentifiable ampullae

decreased superior semicircular canal size ( J:119574 )

• at E17.5, 5 of 24 double heterozygous mutant inner ears (3 of 12 embryos) display a small anterior semicircular canal

abnormal vestibular saccule morphology ( J:119574 )

small vestibular saccule ( J:119574 )

• at E17.5, 18 of 24 double heterozygous mutant inner ears (10 of 12 embryos) display smaller or malshaped sacculae

short endolymphatic duct ( J:119574 )

• at E17.5, 2 of 24 double heterozygous mutant inner ears (2 of 12 embryos) display a truncated endolymphatic duct/sac

Allelic Composition	Pax2^tm1Pgr/Pax2⁺ Ret^tm1Cos/Ret⁺
Genetic Background	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax2^tm1Pgr mutation (1 available); any Pax2 mutation (47 available)
Ret^tm1Cos mutation (2 available); any Ret mutation (52 available)

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:117753 )

• double heterozygotes are significantly underrepresented at weaning, probably due to postnatal renal insufficiency in a subset of newborns

renal/urinary system

decreased renal glomerulus number ( J:117753 )

• at P15, double heterozygotes show a significant reduction of ~49%, 37% and 22% in mean glomerular density (4.57 glomeruli per unit area) relative to wild-type (8.95 glomeruli per unit area), single Ret^tm1Cos heterozygotes (7.25 glomeruli per unit area) and single Pax2^tm1Pgr heterozygotes (5.79 glomeruli per unit area), respectively

renal hypoplasia ( J:117753 )

• at P15, double heterozygotes show a significantly reduced kidney to body mass ratio (0.56%) relative to wild-type (0.75%) or single Ret^tm1Cos heterozygous (0.75%) littermates

• at E18.5, double heterozygotes show a significantly reduced kidney to body mass ratio (0.23%) relative to wild-type (0.42%) or single Ret^tm1Cos heterozygous (0.45%) littermates

absent kidney ( J:117753 )

• at E18.5, about 13% of double heterozygotes display bilateral renal agenesis

single kidney ( J:117753 )

• at E18.5, about 52% of double heterozygotes display unilateral renal agenesis

• at P15, about 15% of double heterozygotes exhibit unilateral renal agenesis, suggesting postnatal death most likely due to renal hypoplasia and insufficiency

absent ureter ( J:117753 )

• at E18.5, the ipsilateral ureters of agenic kidney(s) are also absent

• however, the adrenal glands, bladder and genitals are still present in all instances of renal agenesis

impaired branching involved in ureteric bud morphogenesis ( J:117753 )

• in culture, both E11.5 and E12.5 kidney explants show a stunted pattern of branching morphogenesis with a significantly lower number of branch points relative to wild-type and single Ret^tm1Cos heterozygous explants

Allelic Composition	Eya1^tm1Rilm/Eya1⁺ Pax2^tm1Pgr/Pax2⁺ Six1^tm1Mair/Six1⁺
Genetic Background	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

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

hearing/vestibular/ear

abnormal cochlea morphology ( J:119574 )

• at E17.5, 8 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display a severely malformed cochlea with severely malformed distal tips

decreased cochlea coiling ( J:119574 )

• at E17.5, 1 of 8 triple heterozygous mutant cochleae (1 of 4 embryos) coil between 1.0 and 1.25 turns, and 7 of 8 cochleae (4 of 4 embryos) coil less than 1.0 turn

abnormal semicircular canal morphology ( J:119574 )

• within the semicircular canals, a narrower lumen is observed in some areas

decreased lateral semicircular canal size ( J:119574 )

• at E17.5, 8 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display a small lateral semicircular canal

decreased posterior semicircular canal size ( J:119574 )

• at E17.5, 4 of 8 triple heterozygous mutant inner ears (3 of 4 embryos) display a small posterior semicircular canal while 4 of 8 (3 of 4 embryos) show a truncated posterior semicircular canal

abnormal semicircular canal ampulla morphology ( J:119574 )

• at E17.5, 4 of 8 triple heterozygous mutant inner ears (3 of 4 embryos) display significantly smaller posterior ampullae while 4 of 8 ears (3 of 4 embryos) lack posterior ampullae

• at E17.5, 4 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display significantly smaller anterior ampullae

• at E17.5, 4 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display significantly smaller lateral ampullae

decreased superior semicircular canal size ( J:119574 )

• at E17.5, 8 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display a small anterior semicircular canal

abnormal vestibular saccule morphology ( J:119574 )

• at E17.5, 8 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display a small or malformed saccula

small vestibular saccule ( J:119574 )

short endolymphatic duct ( J:119574 )

• at E17.5, 2 of 8 triple heterozygous mutant inner ears (1 of 4 embryos) display a truncated endolymphatic duct/sac

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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