All Phenotypes Gdnf<tm1Rosl> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Gdnf^tm1Rosl
targeted mutation 1, Arnon Rosenthal
MGI:2136843

Summary

11 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gdnf^tm1Rosl/Gdnf^tm1Rosl	involves: 129S2/SvPas	MGI:3588501
hm2	Gdnf^tm1Rosl/Gdnf^tm1Rosl	involves: 129S2/SvPas * CD-1	MGI:3757647
ht3	Gdnf^tm1Rosl/Gdnf⁺	involves: 129S2/SvPas	MGI:3588504
ht4	Gdnf^tm1Rosl/Gdnf⁺	involves: 129S2/SvPas * C57BL/6	MGI:2675149
cx5	Gdnf^tm1Rosl/Gdnf⁺ Slit2^tm1Matl/Slit2^tm1Matl	involves: 129S2/SvPas	MGI:3043170
cx6	Gdnf^tm1Rosl/Gdnf^tm1Rosl Nrtn^tm1Jmi/Nrtn^tm1Jmi	involves: 129S2/SvPas * 129X1/SvJ * C57BL/6	MGI:3588573
cx7	Gdnf^tm1Rosl/Gdnf⁺ Nrtn^tm1Jmi/Nrtn^tm1Jmi	involves: 129S2/SvPas * 129X1/SvJ * C57BL/6	MGI:3588574
cx8	Bax^tm1Sjk/Bax^tm1Sjk Gdnf^tm1Rosl/Gdnf⁺	involves: 129S2/SvPas * 129X1/SvJ * C57BL/6	MGI:3588576
cx9	Bid^tm1Sjk/Bid^tm1Sjk Gdnf^tm1Rosl/Gdnf⁺	involves: 129S2/SvPas * 129X1/SvJ * C57BL/6	MGI:3588577
cx10	Gdnf^tm1Rosl/Gdnf⁺ Itga8^tm1Lfr/Itga8^tm1Lfr	involves: 129S2/SvPas * 129X1/SvJ * C57BL/6	MGI:3715481
cx11	Gdnf^tm1Rosl/Gdnf⁺ Itga8^tm1Lfr/Itga8⁺	involves: 129S2/SvPas * 129X1/SvJ * C57BL/6	MGI:3715482

Allelic Composition	Gdnf^tm1Rosl/Gdnf^tm1Rosl
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdnf^tm1Rosl mutation (0 available); any Gdnf mutation (19 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:33808 )

• die 1-1.5 days after birth

renal/urinary system

abnormal metanephric mesenchyme morphology ( J:33808 )

• do not have a properly developed metanephric blastema at E11.5

absent kidney ( J:33808 )

• 16 of 20 have complete bilateral renal agenesis

absent ureter ( J:33808 )

• 16 of 20 have complete uretal agenesis

absent ureteric bud ( J:33808 )

• absent ureteric bud

nervous system

abnormal muscle spindle morphology ( J:132854 )

• reduced fusimotor innervation of muscle spindles

• muscle spindle innervation normal in Rectus femoris

absent enteric neurons ( J:33808 )

• vagal neural crest-derived neurons are absent in small and large intestine and only a few are detected in the stomach

abnormal innervation pattern to muscle ( J:110955 )

• peroneal nerve is reduced in diameter while tibial nerve diameter is increased in diameter; mutant phenotype is more severe than that of Ret^tm1Kln; Tg(Pgk1-cre)1Lni or Ret^tm1Kln;Tg(Nes-cre)1Kln mice

abnormal motor neuron innervation pattern ( J:132854 )

• posterior Psoas major lacks innervation

decreased motor neuron number ( J:132854 )

• loss of more than 20% of motor neurons at the lumbar level

• elevated apoptosis of motor neurons between 13.5 and E15.5

abnormal cranial ganglia morphology ( J:33808 )

• 40% reduction in the number of neurons and smaller size of neurons in petrosal-nodose ganglia of P0 mice, however no differences in hindbrain noradrenergic or midbrain dopaminergic neurons

small dorsal root ganglion ( J:33808 )

• 23% reduction in the number of neurons and smaller size of neurons in dorsal root ganglia of P0 mice

• however, no differences in trigeminal sensory and vestibular ganglia are seen

digestive/alimentary system

abnormal intestine morphology ( J:33808 )

• thinner smooth muscle in the intestinal wall

hematopoietic system

abnormal spleen red pulp morphology ( J:33808 )

• exhibit mild multifocal necrosis in the red pulp at sites of active hematopoiesis

immune system

abnormal spleen red pulp morphology ( J:33808 )

• exhibit mild multifocal necrosis in the red pulp at sites of active hematopoiesis

reproductive system

abnormal ovary topology ( J:33808 )

• reversal in the orientation of the ovary in relation to the abdominal viscera

endocrine/exocrine glands

abnormal ovary topology ( J:33808 )

• reversal in the orientation of the ovary in relation to the abdominal viscera

muscle

abnormal muscle spindle morphology ( J:132854 )

• reduced fusimotor innervation of muscle spindles

• muscle spindle innervation normal in Rectus femoris

Allelic Composition	Gdnf^tm1Rosl/Gdnf^tm1Rosl
Genetic Background	involves: 129S2/SvPas * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdnf^tm1Rosl mutation (0 available); any Gdnf mutation (19 available)

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

nervous system

abnormal innervation pattern to muscle ( J:78718 )

• nerves to the cutaneous maximus and latissimus dorsi are missing or with reduced numbers of fibers by E11.5 to E12.5

abnormal spinal nerve morphology ( J:78718 )

• caudal nerve branches from the brachial plexus to the cutaneous maximus and latissimus dorsi become atrophied and misrouted by E11

abnormal spinal cord lateral motor column morphology ( J:78718 )

• reduced numbers of motor neurons expressing Pea3 in the lateral motor colomn of segments C5 to C8 of the spinal cord at E12.5

Allelic Composition	Gdnf^tm1Rosl/Gdnf⁺
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdnf^tm1Rosl mutation (0 available); any Gdnf mutation (19 available)

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

renal/urinary system

renal hypoplasia ( J:33808 )

• 4 of 26 have renal hypoplasia

absent kidney ( J:122519 )

• 9% kidney agenesis incidence

single kidney ( J:33808 )

• 7 of 26 have unilateral renal agenesis

Allelic Composition	Gdnf^tm1Rosl/Gdnf⁺
Genetic Background	involves: 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdnf^tm1Rosl mutation (0 available); any Gdnf mutation (19 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 nervous system morphology ( J:82456 )

• reduction in enteric nervous system precursor proliferation

abnormal enteric ganglia morphology ( J:82456 )

• hypoganglionic enteric nervous system

abnormal enteric neuron morphology ( J:82456 )

• 43% fewer small bowel neurons and 48% fewer colonic myenteric neurons, however acetylcholinesterase-stained myenteric plexus fiber counts in both the colon and small bowel and cell sizes of enteric neurons are normal

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

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:82456

Allelic Composition	Gdnf^tm1Rosl/Gdnf⁺ Slit2^tm1Matl/Slit2^tm1Matl
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdnf^tm1Rosl mutation (0 available); any Gdnf mutation (19 available)
Slit2^tm1Matl mutation (2 available); any Slit2 mutation (88 available)

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

renal/urinary system

abnormal ureter morphology ( J:90324 )

• at E14.5 in 6/30 kidneys 2 ureters or 1 ureter and a blind-ending ectopic protusion are found, in 24/30 only a single ureter is found demonstrating a partial rescue of the Slit2^tm1Matl homozygous phenotype

• in 5/15 kidneys with a single ureter, the single ureter did not undergo remodeling and remained connected to the nephric duct, in the other 10/15 ureter remodeling was also rescued with the ureter connected to the bladder

Allelic Composition	Gdnf^tm1Rosl/Gdnf^tm1Rosl Nrtn^tm1Jmi/Nrtn^tm1Jmi
Genetic Background	involves: 129S2/SvPas * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdnf^tm1Rosl mutation (0 available); any Gdnf mutation (19 available)
Nrtn^tm1Jmi mutation (1 available); any Nrtn mutation (12 available)

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

nervous system

abnormal enteric ganglia morphology ( J:82456 )

• severe intestinal aganglionosis, similar to that seen in single homozygous Gdnf^tm1Rosl mice

Allelic Composition	Gdnf^tm1Rosl/Gdnf⁺ Nrtn^tm1Jmi/Nrtn^tm1Jmi
Genetic Background	involves: 129S2/SvPas * 129X1/SvJ * C57BL/6

Find Mice

♀	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 )

• decrease in the number and cell size of small bowel and colon myenteric and submucosal neurons

• density of acetylcholinesterase-stained neuronal fibers in the myenteric plexus is reduced to a similar extent as in homozygous Nrtn^tm1Jmi mice

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	Bax^tm1Sjk/Bax^tm1Sjk Gdnf^tm1Rosl/Gdnf⁺
Genetic Background	involves: 129S2/SvPas * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bax^tm1Sjk mutation (1 available); any Bax mutation (24 available)
Gdnf^tm1Rosl mutation (0 available); any Gdnf mutation (19 available)

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

nervous system

abnormal enteric neuron morphology ( J:82456 )

• 32-33% and 43-48% reduction in submucosal and myenteric neurons, respectively, similar to that seen in single heterozygous Gdnf mutants

Allelic Composition	Bid^tm1Sjk/Bid^tm1Sjk Gdnf^tm1Rosl/Gdnf⁺
Genetic Background	involves: 129S2/SvPas * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bid^tm1Sjk mutation (1 available); any Bid mutation (44 available)
Gdnf^tm1Rosl mutation (0 available); any Gdnf mutation (19 available)

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

nervous system

abnormal enteric neuron morphology ( J:82456 )

• 32-33% and 43-48% reduction in submucosal and myenteric neurons, respectively, similar to that seen in single heterozygous Gdnf mutants

Allelic Composition	Gdnf^tm1Rosl/Gdnf⁺ Itga8^tm1Lfr/Itga8^tm1Lfr
Genetic Background	involves: 129S2/SvPas * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdnf^tm1Rosl mutation (0 available); any Gdnf mutation (19 available)
Itga8^tm1Lfr mutation (2 available); any Itga8 mutation (75 available)

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

renal/urinary system

abnormal kidney morphology ( J:122519 )

• only kidney observed is highly dysplastic

small kidney ( J:122519 )

absent kidney ( J:122519 )

• 95% kidney agenesis incidence; only 1 kidney is found in total in 11 animals

Allelic Composition	Gdnf^tm1Rosl/Gdnf⁺ Itga8^tm1Lfr/Itga8⁺
Genetic Background	involves: 129S2/SvPas * 129X1/SvJ * C57BL/6

Find Mice

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

renal/urinary system

absent kidney ( J:122519 )

• 53% kidney agenesis incidence

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