Phenotypes associated with this allele

• Allele Symbol: Ret^tm2(RET)Vpa
• Allele Name: targeted mutation 2, Vassilis Pachnis
• Allele ID: MGI:2387446
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ret^tm2(RET)Vpa/Ret^tm2(RET)Vpa	involves: 129P2/OlaHsd	MGI:3609196
hm2	Ret^tm2(RET)Vpa/Ret^tm2(RET)Vpa	involves: 129P2/OlaHsd * C57BL/6J	MGI:3609195
ht3	Ret^tm1(RET)Vpa/Ret^tm2(RET)Vpa	involves: 129P2/OlaHsd	MGI:3609200
ht4	Ret^tm1Cos/Ret^tm2(RET)Vpa	involves: 129P2/OlaHsd * 129S/SvEv	MGI:3609201

Genotype
MGI:3609196

hm1

• Allelic Composition: Ret^tm2(RET)Vpa/Ret^tm2(RET)Vpa
• Genetic Background: involves: 129P2/OlaHsd

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:71588 )

• less than 5% of homozygotes survive to 2 -3 months of age

growth/size/body

kidney cyst ( J:71588 )

postnatal growth retardation ( J:71588 )

• surviving homozygotes display severe growth retardation

nervous system

absent enteric neural crest cell ( J:71588 )

• no enteric neural crest cells are seen in the terminal 3/4 of the colon at any time from E11.5 to E13.5

abnormal enteric ganglia morphology ( J:71588 )

• enteric ganglia are severely reduced or absent in the terminal 3/4 of the colon and reduced but present in the remaining 1/4 of the colon

renal/urinary system

abnormal kidney morphology ( J:71588 )

• dysplastic

kidney cyst ( J:71588 )

renal hypoplasia ( J:71588 )

• kidneys are 1/3 to 1/4 the volume of wild-type kidneys with fewer nephrons

impaired branching involved in ureteric bud morphogenesis ( J:71588 )

• onset of ureteric bud development is normal (at E10.5 and E12.5) but at E13.5 the number of ureteric bud branches is reduced and this reduction becomes more severe with age

embryo

abnormal enteric neural crest cell migration ( J:71588 )

• failure of enteric neural crest cells to colonize the colon during embryogenesis

absent enteric neural crest cell ( J:71588 )

• no enteric neural crest cells are seen in the terminal 3/4 of the colon at any time from E11.5 to E13.5

cellular

abnormal enteric neural crest cell migration ( J:71588 )

• failure of enteric neural crest cells to colonize the colon during embryogenesis

Genotype
MGI:3609195

hm2

• Allelic Composition: Ret^tm2(RET)Vpa/Ret^tm2(RET)Vpa
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

nervous system

abnormal enteric ganglia morphology ( J:102170 )

• enteric ganglia are absent from the distal portion of the colon

renal/urinary system

small kidney ( J:102170 )

• kidneys are reduced in size compared to wild-type mice and mice homozygous for Ret^tm5(RET)Vpa

Genotype
MGI:3609200

ht3

• Allelic Composition: Ret^tm1(RET)Vpa/Ret^tm2(RET)Vpa
• Genetic Background: involves: 129P2/OlaHsd

normal phenotype

no abnormal phenotype detected ( J:71588 )

• homozygotes are viable with normal kidney and gastrointestinal morphology

Genotype
MGI:3609201

ht4

• Allelic Composition: Ret^tm1Cos/Ret^tm2(RET)Vpa
• Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv

renal/urinary system

abnormal kidney morphology ( J:71588 )

• kidneys are more severely affected than in mice homozygous for Ret^tm2(RET)Vpa

renal hypoplasia ( J:71588 )

• kidneys are more severely affected than in mice homozygous for Ret^tm2(RET)Vpa