Phenotypes associated with this allele

• Allele Symbol: Pax2^M1Bpb
• Allele Name: mutation 1, Brian P Brooks
• Allele ID: MGI:4442602
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax2^M1Bpb/Pax2^M1Bpb	C57BL/6-Pax2^M1Bpb	MGI:4442635
ht2	Pax2^M1Bpb/Pax2^+	C57BL/6-Pax2^M1Bpb	MGI:4442633
ht3	Pax2^M1Bpb/Pax2^+	involves: C3H/HeJ * C57BL/6	MGI:4442634

Genotype
MGI:4442635

hm1

• Allelic Composition: Pax2^M1Bpb/Pax2^M1Bpb
• Genetic Background: C57BL/6-Pax2^M1Bpb

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

Pax2^M1Bpb/Pax2^M1Bpb mice exhibit eye development abnormalities

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:159240 )

• although present at normal Mendelian ratios at E10.5 to E14.5, only some mice are recovered at E17.5

• lethal either later in gestation or perinatally

perinatal lethality, complete penetrance ( J:159240 )

• embryos surviving to late gestation were lethal either late in gestation or perinatally

nervous system

nervous system phenotype ( J:159240 )

N • unlike other Pax2 mutant mice, the midbrain-hindbrain boundary is normal and mice do not exhibit exencephaly

abnormal neural crest morphology ( J:159240 )

• the neural crest differentiation into vascular structure is delayed compared to in wild-type mice

abnormal midbrain-hindbrain boundary morphology ( J:159240 )

• in 3 of 38 mice at E10.5 to E12.5, the midbrain-hindbrain region is mildly flattened compared to in wild-type mice

renal/urinary system

abnormal kidney development ( J:159240 )

• at E13.5, induction of mesenchyme surrounding the kidney is reduced compared to in wild-type mice

renal hypoplasia ( J:159240 )

• at E17.5

vision/eye

delayed optic fissure closure ( J:159240 )

• closure of the optic fissure is delayed sometimes resulting in uveal coloboma unlike in wild-type mice

uveal coloboma ( J:159240 )

• closure of the optic fissure is delayed sometimes resulting in uveal coloboma unlike in wild-type mice

embryo

abnormal neural crest morphology ( J:159240 )

• the neural crest differentiation into vascular structure is delayed compared to in wild-type mice

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

Genotype
MGI:4442633

ht2

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

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

Genotype
MGI:4442634

ht3

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

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