Phenotypes associated with this allele

• Allele Symbol: Robo2^tm1.1Rilm
• Allele Name: targeted mutation 1.1, Richard Maas
• Allele ID: MGI:3759448
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Robo2^tm1.1Rilm/Robo2^tm1.1Rilm	involves: 129	MGI:3772916
hm2	Robo2^tm1.1Rilm/Robo2^tm1.1Rilm	involves: 129 * C57BL/6 * FVB/N	MGI:3759461
cn3	Robo2^tm1Rilm/Robo2^tm1.1Rilm Tg(EIIa-cre)C5379Lmgd/?	involves: 129 * C57BL/6 * FVB/N	MGI:3759462
cx4	Robo2^tm1.1Rilm/Robo2^+ Tg(Hoxb7-EGFP)33Cos/?	involves: 129 * C57BL/6 * CBA * FVB/N	MGI:3759463

Genotype
MGI:3772916

hm1

• Allelic Composition: Robo2^tm1.1Rilm/Robo2^tm1.1Rilm
• Genetic Background: involves: 129

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

mortality/aging

perinatal lethality, complete penetrance ( J:130430 )

• mice die at birth

nervous system

abnormal brain interneuron morphology ( J:130430 )

• at E15.5, mice exhibit a small increase in cortical calbindin+ cells compared to wild-type

• however, by E17.5 the number of interneurons is normal

abnormal neurite morphology ( J:130430 )

• neurite process length in the subventricular zone and intermediate zone is increased compared to in wild-type mice

Genotype
MGI:3759461

hm2

• Allelic Composition: Robo2^tm1.1Rilm/Robo2^tm1.1Rilm
• Genetic Background: involves: 129 * C57BL/6 * FVB/N

mortality/aging

postnatal lethality, complete penetrance ( J:125214 )

• mice die shortly after birth

renal/urinary system

abnormal kidney morphology ( J:125214 )

• mice exhibit multiplex, dysplastic kidneys

kidney cyst ( J:125214 )

• mice display dysplastic cysts in the calyces and an internalized nephrogenic zone

short ureter ( J:125214 )

growth/size/body

kidney cyst ( J:125214 )

• mice display dysplastic cysts in the calyces and an internalized nephrogenic zone

Genotype
MGI:3759462

cn3

• Allelic Composition: Robo2^tm1Rilm/Robo2^tm1.1Rilm; Tg(EIIa-cre)C5379Lmgd/?
• Genetic Background: involves: 129 * C57BL/6 * FVB/N

renal/urinary system

abnormal renal/urinary system morphology ( J:125214 )

• mice exhibit unilateral urinary tract abnormalities, including short ureter, megaureter, and hydronephrosis

kidney cyst ( J:125214 )

• kidney parenchyma is replaced by large cysts

hydronephrosis ( J:125214 )

• ureterovesical junctions associated with obstructions lead to megaureter and hydronephrosis

abnormal ureter morphology ( J:125214 )

• in some males the ureter is connected to the vas deferens resulting in massive hydronephrosis

large ureter ( J:125214 )

• ureterovesical junctions associated with obstructions lead to megaureter and hydronephrosis

short ureter ( J:125214 )

abnormal ureterovesical junction morphology ( J:125214 )

• 7 of 10 mice exhibit bilateral ureterovesical junction defects, where one UVJ is typically located laterally and cephalad in the bladder (commonly associated with reflux in man) whereas the contralateral UVJ is located caudad in the bladder or even ectopically in the urethra

ureterovesical junction obstruction ( J:125214 )

• the caudal UVJ location is associated with obstruction, leading to megaureter and severe hydronephrosis

reproductive system

abnormal vas deferens morphology ( J:125214 )

♂ • in some males the ureter is connected to the vas deferens resulting in massive hydronephrosis

growth/size/body

kidney cyst ( J:125214 )

• kidney parenchyma is replaced by large cysts

Genotype
MGI:3759463

cx4

• Allelic Composition: Robo2^tm1.1Rilm/Robo2⁺; Tg(Hoxb7-EGFP)33Cos/?
• Genetic Background: involves: 129 * C57BL/6 * CBA * FVB/N

renal/urinary system

abnormal renal/urinary system morphology ( J:125214 )

• mice exhibit unilateral congenital anomalies of the kidney and urinary tract with vesicouretal reflux (CAKUT-VUR)

• mice exhibit uretrovesical junctions

dilated ureter ( J:125214 )

• mice display early ureter dilation

large ureter ( J:125214 )

• mice exhibit massive and lesser megaureter