All Phenotypes Ret<tm2(RET)Jmi> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Ret^tm2(RET)Jmi
targeted mutation 2, Jeffrey Milbrandt
MGI:3057332

Summary

7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ret^tm2(RET)Jmi/Ret^tm2(RET)Jmi	involves: 129X1/SvJ * C57BL/6	MGI:3614965
hm2	Ret^tm2(RET)Jmi/Ret^tm2(RET)Jmi	Not Specified	MGI:3487262
ht3	Ret^tm2(RET)Jmi/Ret^{tm3.1(Bcl2l1)Heno}	involves: 129/Sv * C57BL/6	MGI:4459064
ht4	Ret^tm1Cos/Ret^tm2(RET)Jmi	involves: 129S/Sv * C57BL/6	MGI:4820807
ht5	Ret^tm2.1Heno/Ret^tm2(RET)Jmi	involves: 129S/Sv * C57BL/6 * FVB/N	MGI:4820813
ht6	Ret^tm1Heno/Ret^tm2(RET)Jmi	involves: 129X1/SvJ * C57BL/6	MGI:4459065
cn7	Ret^tm2(RET)Heno/Ret^tm2(RET)Jmi Tg(CAG-cre/Esr1*)5Amc/0	involves: 129S/Sv * C57BL/6 * CBA	MGI:4820814

Allelic Composition	Ret^tm2(RET)Jmi/Ret^tm2(RET)Jmi
Genetic Background	involves: 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ret^tm2(RET)Jmi mutation (0 available); any Ret mutation (53 available)

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

renal/urinary system

hydronephrosis ( J:105047 )

• very low penetrance (3/50) of unilateral proximal ureter dilation/hydronephrosis, however these mice are viable, have normally located gonads, no overt defects in the enteric nervous system, and essentially normal kidneys

dilated ureter ( J:105047 )

• very low penetrance (1/50) of unilateral proximal ureter dilation/hydronephrosis

Allelic Composition	Ret^tm2(RET)Jmi/Ret^tm2(RET)Jmi
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ret^tm2(RET)Jmi mutation (0 available); any Ret mutation (53 available)

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

nervous system

nervous system phenotype ( J:93262 )

N	• normal peripheral (enteric) nervous system

Allelic Composition	Ret^tm2(RET)Jmi/Ret^{tm3.1(Bcl2l1)Heno}
Genetic Background	involves: 129/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ret^tm2(RET)Jmi mutation (0 available); any Ret mutation (53 available)
Ret^{tm3.1(Bcl2l1)Heno} mutation (0 available); any Ret mutation (53 available)

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

mortality/aging

mortality/aging ( J:159854 )

N	• mice exhibit improved survival compared with Ret^tm1Heno/Ret^tm2(RET)Jmi mice

digestive/alimentary system

digestive/alimentary phenotype ( J:159854 )

N	• gut motility is normal

nervous system

absent enteric neurons ( J:159854 )

• 1 of 51 mice exhibit aganglionosis compared with wild-type mice

• however, 50 of 51 mice exhibit normal enteric nervous system

embryo

abnormal enteric neural crest cell migration ( J:159854 )

• colonization of the hindgut with enteric neural crest cells is delayed compared to in wild-type mice

cellular

abnormal enteric neural crest cell migration ( J:159854 )

• colonization of the hindgut with enteric neural crest cells is delayed compared to in wild-type mice

Allelic Composition	Ret^tm1Cos/Ret^tm2(RET)Jmi
Genetic Background	involves: 129S/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ret^tm1Cos mutation (2 available); any Ret mutation (53 available)
Ret^tm2(RET)Jmi mutation (0 available); any Ret mutation (53 available)

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

digestive/alimentary system

aganglionic megacolon ( J:135153 )

• exhibited aganglionosis only in the colon, and the abnormal morphology of the enteric neuronal plexus with incomplete penetrance

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hirschsprung's disease		DOID:10487	OMIM:600156 OMIM:606874 OMIM:606875 OMIM:608462 OMIM:611644	J:135153

Allelic Composition	Ret^tm2.1Heno/Ret^tm2(RET)Jmi
Genetic Background	involves: 129S/Sv * C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ret^tm2.1Heno mutation (0 available); any Ret mutation (53 available)
Ret^tm2(RET)Jmi mutation (0 available); any Ret mutation (53 available)

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

embryo

abnormal enteric neural crest cell migration ( J:135153 )

• a slight delay at E11.5 in the migratory behavior of enteric neural crest-derived cells (ENCDC) at the levels where the migrating wave front advances into the hindgut

• at E12.5-E13.5, the delay in hindgut colonization by ENCDCs is greatly enhanced

• in approximately half of the fetuses, ENCDC colonization was not observed in the distal colon even at E15.5

nervous system

abnormal enteric ganglia morphology ( J:135153 )

• the nuclei were found to be abnormally indented, resulting in multilobular nuclei ganglia

cellular

abnormal enteric neural crest cell migration ( J:135153 )

• a slight delay at E11.5 in the migratory behavior of enteric neural crest-derived cells (ENCDC) at the levels where the migrating wave front advances into the hindgut

• at E12.5-E13.5, the delay in hindgut colonization by ENCDCs is greatly enhanced

• in approximately half of the fetuses, ENCDC colonization was not observed in the distal colon even at E15.5

Allelic Composition	Ret^tm1Heno/Ret^tm2(RET)Jmi
Genetic Background	involves: 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ret^tm1Heno mutation (0 available); any Ret mutation (53 available)
Ret^tm2(RET)Jmi mutation (0 available); any Ret mutation (53 available)

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

mortality/aging

premature death ( J:159854 )

postnatal lethality, incomplete penetrance ( J:159854 )

• 23% of mice die between P5 and P31

digestive/alimentary system

abnormal defecation ( J:159854 )

• mice exhibit decreased stool frequency compared with control mice

abnormal feces composition ( J:159854 )

• mice exhibit wet stool weight and water stool content compared with control mice

renal/urinary system

renal/urinary system phenotype ( J:159854 )

N	• mice exhibit normal kidney development

nervous system

nervous system phenotype ( J:159854 )

N	• mice exhibit normal motor innervation

absent enteric neurons ( J:159854 )

• in 8 of 21 mice

embryo

abnormal enteric neural crest cell migration ( J:159854 )

• colonization of the hindgut with enteric neural crest cells is delayed compared to in wild-type mice

growth/size/body

decreased body weight ( J:159854 )

postnatal growth retardation ( J:159854 )

cellular

abnormal enteric neural crest cell migration ( J:159854 )

• colonization of the hindgut with enteric neural crest cells is delayed compared to in wild-type mice

Allelic Composition	Ret^tm2(RET)Heno/Ret^tm2(RET)Jmi Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background	involves: 129S/Sv * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ret^tm2(RET)Heno mutation (0 available); any Ret mutation (53 available)
Ret^tm2(RET)Jmi mutation (0 available); any Ret mutation (53 available)
Tg(CAG-cre/Esr1*)5Amc mutation (9 available)

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

digestive/alimentary system

abnormal large intestine morphology ( J:135153 )

• oligoganglionic gut, puncta of nerve fiber and cell body staining are frequently observed in the interganglionic spaces with incomplete penetrance

embryo

decreased neural crest cell number ( J:135153 )

nervous system

decreased neural crest cell number ( J:135153 )

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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