All Phenotypes Ret<tm1Cos> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ret^tm1Cos/Ret^tm1Cos	involves: 129S/Sv * C57BL/6	MGI:4820806
hm2	Ret^tm1Cos/Ret^tm1Cos	involves: 129S/SvEv	MGI:5604497
hm3	Ret^tm1Cos/Ret^tm1Cos	involves: 129S/SvEv * MF1	MGI:2175009
ht4	Ret^tm1Cos/Ret⁺	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ	MGI:5295936
ht5	Ret^tm1Cos/Ret⁺	involves: 129S/SvEv * C57BL/6	MGI:3588575
ht6	Ret^tm1Cos/Ret^tm2(RET)Vpa	involves: 129P2/OlaHsd * 129S/SvEv	MGI:3609201
ht7	Ret^tm1Cos/Ret^tm2(RET)Jmi	involves: 129S/Sv * C57BL/6	MGI:4820807
ht8	Ret^tm1Cos/Ret^tm2.1Cos	involves: 129S/SvEv * 129S1/Sv * C57BL/6J * FVB/N * MF1	MGI:3583336
cn9	Ret^tm2(RET)Heno/Ret^tm1Cos Tg(CAG-cre/Esr1*)5Amc/0	involves: 129S/Sv * C57BL/6 * CBA	MGI:4820805
cx10	Pax2^tm1Pgr/Pax2⁺ Ret^tm1Cos/Ret⁺	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ	MGI:5295884
cx11	Ret^tm1Cos/Ret⁺ Wnt11^tm1Amc/Wnt11⁺	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * MF1	MGI:2665016
cx12	Ret^tm1Cos/Ret⁺ Wnt11^tm1Amc/Wnt11^tm1Amc	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * MF1	MGI:2665019

Allelic Composition	Ret^tm1Cos/Ret^tm1Cos
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)

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

nervous system

abnormal enteric nervous system morphology ( J:135153 )

• absence of neurofilament labeling in latissimus dorsi muscle of P0 mice

abnormal enteric ganglia morphology ( J:135153 )

• display a nearly complete absence of the enteric ganglia throughout the entire gastrointestinal tract

renal/urinary system

absent kidney ( J:135153 )

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^tm1Cos/Ret^tm1Cos
Genetic Background	involves: 129S/SvEv

Find Mice

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

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

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:82111 )

N	• adrenal chromaffin cells develop normally, despite high levels of Ret expression occuring in normal development of these cells

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

mortality/aging

neonatal lethality, complete penetrance ( J:23852 , J:30389 )

• death occurred 16-24 hours after birth (J:23852)

cardiovascular system

cardiovascular system phenotype ( J:64539 )

N	• no gross abnormalities, the ventricles, atria, valves, aorta and pulmonary trunk showed no defects

digestive/alimentary system

intestinal hypoperistalsis ( J:23852 , J:30389 )

• failure of milk to progress from the stomach to the intestine (J:23852)

renal/urinary system

abnormal kidney morphology ( J:23852 , J:30389 )

• remaining kidney rudiments are dysplastic with few nephric elements (proximal and distal tubules, glomeruli, and vessels) and no recognizable medulla, cortex, or nephrogenic zone (J:23852)

• dysplastic (J:30389)

abnormal kidney collecting duct morphology ( J:23852 )

• absence of mature collecting ducts

dilated renal glomerular capsule ( J:30389 )

abnormal kidney mesenchyme morphology ( J:23852 )

• persistence of large regions of undifferentiated mesenchyme

abnormal metanephric mesenchyme morphology ( J:84282 )

• the metanephric mesenchyme did not condense by E11.5

increased metanephric mesenchyme apoptosis ( J:84282 )

• the metanephric mesenchyme underwent apoptosis at E12.5

absent nephrogenic zone ( J:23852 )

• no recognizable nephrogenic zone

small kidney ( J:30389 )

• rudimetary and are of similar size to the adrenal glands when present

dilated renal tubule ( J:30389 )

absent kidney ( J:23852 , J:30389 )

• variable penetrance; kidneys are absent or rudimetary; both unilateral and bilateral effects were observed (J:23852)

• variable penetrance (J:30389)

abnormal ureter morphology ( J:23852 , J:30389 )

• variable severity; some animals exhibited an absent ureter and kidney, while others exhibited blind ureters with no renal tissue (J:23852)

• sometimes absent or blind-ending (J:30389)

abnormal ureter development ( J:23852 )

• reduced branching of the ureter

absent ureter ( J:23852 , J:30389 )

• sometimes absent (J:30389)

blind ureter ( J:23852 , J:30389 )

• sometimes blind-ending (J:30389)

abnormal branching involved in ureteric bud morphogenesis ( J:84282 )

• of those buds that entered the mesenchyme, the growth and branching was abnormal, if occuring at all

abnormal ureteric bud elongation ( J:84282 )

• when the uteric bud was present, growth was retarded

abnormal ureteric bud invasion ( J:84282 )

• in approximately half of the mutant embryos, the uteric bud failed to evaginate although a mesenchymal blastema and a Wollfian duct were present in metanephroi

• when the uteric bud was present, growth was retarded and either failed to enter the mesenchyme or was delayed; at E11.0, 8% of the mutant buds had entered the mesenchyme

respiratory system

abnormal lung development ( J:30389 )

• underdeveloped or collapsed lungs; likely a secondary effect of deficient amniotic fluid production by the kidneys

nervous system

absent enteric neurons ( J:23852 , J:30389 , J:30830 )

• no neurons in the small or large intestine, esophagus or stomach (J:23852)

• neurons and glia were absent from the distal stomach, duodenum, small and large intestine, but not the esophagus or the proximal stomach as determined by TH, NF or MASH-1 immunoreactivity (J:30830)

abnormal cardiac ganglion morphology ( J:64539 )

• cardiac ganglion volume was 56% smaller than controls, due to a reduction in neuronal cell number

abnormal parasympathetic postganglionic fiber morphology ( J:64539 )

• in two of six hearts, the AV node, the AV bundle and the proximal bundle branches were devoid of cholinergic fibers

abnormal stellate ganglion morphology ( J:30830 )

• occasionally larger than in controls

absent superior cervical ganglion ( J:30830 )

• absent as early as E12.5, while all other sympathetic ganglia were present

embryo

increased metanephric mesenchyme apoptosis ( J:84282 )

• the metanephric mesenchyme underwent apoptosis at E12.5

abnormal enteric neural crest cell migration ( J:30830 )

• mutant enteric crest cells were detected in the esophagus and proximal stomach, but not the rest of the gastrointestinal tract

abnormal mesonephros morphology ( J:84282 )

• reduced numbers of mesonephric tubules were observed at E11.5

cellular

increased metanephric mesenchyme apoptosis ( J:84282 )

• the metanephric mesenchyme underwent apoptosis at E12.5

abnormal enteric neural crest cell migration ( J:30830 )

• mutant enteric crest cells were detected in the esophagus and proximal stomach, but not the rest of the gastrointestinal tract

homeostasis/metabolism

oligohydramnios ( J:30389 )

• deficient amniotic fluid production by the kidneys

muscle

intestinal hypoperistalsis ( J:23852 , J:30389 )

• failure of milk to progress from the stomach to the intestine (J:23852)

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:23852 , J:30389

Allelic Composition	Ret^tm1Cos/Ret⁺
Genetic Background	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ

Find Mice

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

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

renal/urinary system

decreased renal glomerulus number ( J:117753 )

• at P15, heterozygotes show a reduced mean glomerular density relative to wild-type littermates (7.25 versus 8.95 glomeruli per unit area, respectively)

single kidney ( J:117753 )

• at P15, about 4% of heterozygotes exhibit unilateral renal agenesis

Allelic Composition	Ret^tm1Cos/Ret⁺
Genetic Background	involves: 129S/SvEv * C57BL/6

Find Mice

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

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

digestive/alimentary system

intestinal hypoperistalsis ( J:82456 )

• decrease in both longitudinal and circular muscle contraction of the intestine in response to electric field stimulation

nervous system

abnormal enteric neuron morphology ( J:82456 )

• colon submucosal neuron size is reduced by 16%, however cell size of small bowel submucosal neurons and myenteric and submucosal neuron numbers in the small bowel and colon are normal

• the myenteric plexus has a 35% reduction in cell size in the small bowel and 34% reduction in the colon

• myenteric neuron acetylcholinesterase-stained fiber counts are reduced by 11-13%

abnormal neurotransmitter secretion ( J:82456 )

• 70-95% reduction in substance P and VIP release

muscle

intestinal hypoperistalsis ( J:82456 )

• decrease in both longitudinal and circular muscle contraction of the intestine in response to electric field stimulation

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

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)Vpa mutation (0 available); any Ret mutation (53 available)

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

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

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^tm1Cos/Ret^tm2.1Cos
Genetic Background	involves: 129S/SvEv * 129S1/Sv * C57BL/6J * FVB/N * MF1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ret^tm1Cos mutation (2 available); any Ret mutation (53 available)
Ret^tm2.1Cos mutation (1 available); any Ret mutation (53 available)

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

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:60659 )

N	• do not exhibit ganglioneuromas, nodular chromaffin cell hyperplasia or pheochromocytomas

reproductive system

reproductive system phenotype ( J:60659 )

N	• males are fertile

neoplasm

neoplasm ( J:60659 )

N	• do not exhibit ganglioneuromas or pheochromocytomas

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	multiple endocrine neoplasia type 2B	DOID:10016	OMIM:162300	J:60659
NOT	pheochromocytoma	DOID:0050771	OMIM:171300	J:60659

Allelic Composition	Ret^tm2(RET)Heno/Ret^tm1Cos 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^tm1Cos mutation (2 available); any Ret mutation (53 available)
Ret^tm2(RET)Heno 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

nervous system

abnormal enteric ganglia morphology ( J:135153 )

• at E15.5 a nearly complete elimination of the enteric ganglia in the colon when treated with 4-OHT

Allelic Composition	Pax2^tm1Pgr/Pax2⁺ Ret^tm1Cos/Ret⁺
Genetic Background	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax2^tm1Pgr mutation (1 available); any Pax2 mutation (44 available)
Ret^tm1Cos mutation (2 available); any Ret mutation (53 available)

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:117753 )

• double heterozygotes are significantly underrepresented at weaning, probably due to postnatal renal insufficiency in a subset of newborns

renal/urinary system

decreased renal glomerulus number ( J:117753 )

• at P15, double heterozygotes show a significant reduction of ~49%, 37% and 22% in mean glomerular density (4.57 glomeruli per unit area) relative to wild-type (8.95 glomeruli per unit area), single Ret^tm1Cos heterozygotes (7.25 glomeruli per unit area) and single Pax2^tm1Pgr heterozygotes (5.79 glomeruli per unit area), respectively

renal hypoplasia ( J:117753 )

• at P15, double heterozygotes show a significantly reduced kidney to body mass ratio (0.56%) relative to wild-type (0.75%) or single Ret^tm1Cos heterozygous (0.75%) littermates

• at E18.5, double heterozygotes show a significantly reduced kidney to body mass ratio (0.23%) relative to wild-type (0.42%) or single Ret^tm1Cos heterozygous (0.45%) littermates

absent kidney ( J:117753 )

• at E18.5, about 13% of double heterozygotes display bilateral renal agenesis

single kidney ( J:117753 )

• at E18.5, about 52% of double heterozygotes display unilateral renal agenesis

• at P15, about 15% of double heterozygotes exhibit unilateral renal agenesis, suggesting postnatal death most likely due to renal hypoplasia and insufficiency

absent ureter ( J:117753 )

• at E18.5, the ipsilateral ureters of agenic kidney(s) are also absent

• however, the adrenal glands, bladder and genitals are still present in all instances of renal agenesis

impaired branching involved in ureteric bud morphogenesis ( J:117753 )

• in culture, both E11.5 and E12.5 kidney explants show a stunted pattern of branching morphogenesis with a significantly lower number of branch points relative to wild-type and single Ret^tm1Cos heterozygous explants

Allelic Composition	Ret^tm1Cos/Ret⁺ Wnt11^tm1Amc/Wnt11⁺
Genetic Background	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * MF1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ret^tm1Cos mutation (2 available); any Ret mutation (53 available)
Wnt11^tm1Amc mutation (2 available); any Wnt11 mutation (22 available)

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

renal/urinary system

small kidney ( J:83430 )

• kidneys are 52% the size of wild-type at E18.5

Allelic Composition	Ret^tm1Cos/Ret⁺ Wnt11^tm1Amc/Wnt11^tm1Amc
Genetic Background	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * MF1

Find Mice

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

renal/urinary system

small kidney ( J:83430 )

• kidneys are 44% the size of Wnt11-null kidneys and 67% the size of Ret,Wnt11 double heterozygotes

impaired branching involved in ureteric bud morphogenesis ( J:83430 )

• ureteric branching is severely affected at E12.5, much mores so than in Wnt11 null embryos

• kidneys only have 2-4 ureteric buds at E12.5 compared to the normal 7 in wild-type

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