Phenotypes Associated with This Genotype

Genotype
MGI:4442635

• 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

perinatal lethality, complete penetrance ( J:159240 )

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

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

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