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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Gdnftm1Rosl
targeted mutation 1, Arnon Rosenthal
MGI:2136843
Summary 11 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Gdnftm1Rosl/Gdnftm1Rosl involves: 129S2/SvPas MGI:3588501
hm2
Gdnftm1Rosl/Gdnftm1Rosl involves: 129S2/SvPas * CD-1 MGI:3757647
ht3
Gdnftm1Rosl/Gdnf+ involves: 129S2/SvPas MGI:3588504
ht4
Gdnftm1Rosl/Gdnf+ involves: 129S2/SvPas * C57BL/6 MGI:2675149
cx5
Gdnftm1Rosl/Gdnf+
Slit2tm1Matl/Slit2tm1Matl
involves: 129S2/SvPas MGI:3043170
cx6
Gdnftm1Rosl/Gdnftm1Rosl
Nrtntm1Jmi/Nrtntm1Jmi
involves: 129S2/SvPas * 129X1/SvJ * C57BL/6 MGI:3588573
cx7
Gdnftm1Rosl/Gdnf+
Nrtntm1Jmi/Nrtntm1Jmi
involves: 129S2/SvPas * 129X1/SvJ * C57BL/6 MGI:3588574
cx8
Baxtm1Sjk/Baxtm1Sjk
Gdnftm1Rosl/Gdnf+
involves: 129S2/SvPas * 129X1/SvJ * C57BL/6 MGI:3588576
cx9
Bidtm1Sjk/Bidtm1Sjk
Gdnftm1Rosl/Gdnf+
involves: 129S2/SvPas * 129X1/SvJ * C57BL/6 MGI:3588577
cx10
Gdnftm1Rosl/Gdnf+
Itga8tm1Lfr/Itga8tm1Lfr
involves: 129S2/SvPas * 129X1/SvJ * C57BL/6 MGI:3715481
cx11
Gdnftm1Rosl/Gdnf+
Itga8tm1Lfr/Itga8+
involves: 129S2/SvPas * 129X1/SvJ * C57BL/6 MGI:3715482


Genotype
MGI:3588501
hm1
Allelic
Composition
Gdnftm1Rosl/Gdnftm1Rosl
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdnftm1Rosl mutation (0 available); any Gdnf mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die 1-1.5 days after birth

renal/urinary system
• do not have a properly developed metanephric blastema at E11.5
• 16 of 20 have complete bilateral renal agenesis
• 16 of 20 have complete uretal agenesis
• absent ureteric bud

nervous system
• reduced fusimotor innervation of muscle spindles
• muscle spindle innervation normal in Rectus femoris
• vagal neural crest-derived neurons are absent in small and large intestine and only a few are detected in the stomach
• peroneal nerve is reduced in diameter while tibial nerve diameter is increased in diameter; mutant phenotype is more severe than that of Rettm1Kln; Tg(Pgk1-cre)1Lni or Rettm1Kln;Tg(Nes-cre)1Kln mice
• posterior Psoas major lacks innervation
• loss of more than 20% of motor neurons at the lumbar level
• elevated apoptosis of motor neurons between 13.5 and E15.5
• 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
• 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
• thinner smooth muscle in the intestinal wall

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

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

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

endocrine/exocrine glands
• reversal in the orientation of the ovary in relation to the abdominal viscera

muscle
• reduced fusimotor innervation of muscle spindles
• muscle spindle innervation normal in Rectus femoris




Genotype
MGI:3757647
hm2
Allelic
Composition
Gdnftm1Rosl/Gdnftm1Rosl
Genetic
Background
involves: 129S2/SvPas * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdnftm1Rosl mutation (0 available); any Gdnf mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• nerves to the cutaneous maximus and latissimus dorsi are missing or with reduced numbers of fibers by E11.5 to E12.5
• caudal nerve branches from the brachial plexus to the cutaneous maximus and latissimus dorsi become atrophied and misrouted by E11
• reduced numbers of motor neurons expressing Pea3 in the lateral motor colomn of segments C5 to C8 of the spinal cord at E12.5




Genotype
MGI:3588504
ht3
Allelic
Composition
Gdnftm1Rosl/Gdnf+
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdnftm1Rosl mutation (0 available); any Gdnf mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• 4 of 26 have renal hypoplasia
• 9% kidney agenesis incidence
• 7 of 26 have unilateral renal agenesis




Genotype
MGI:2675149
ht4
Allelic
Composition
Gdnftm1Rosl/Gdnf+
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdnftm1Rosl mutation (0 available); any Gdnf mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• decrease in both longitudinal and circular muscle contraction of the intestine in response to electric field stimulation

nervous system
• reduction in enteric nervous system precursor proliferation
• hypoganglionic enteric nervous system
• 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
• 70-95% reduction in substance P and VIP release

muscle
• 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




Genotype
MGI:3043170
cx5
Allelic
Composition
Gdnftm1Rosl/Gdnf+
Slit2tm1Matl/Slit2tm1Matl
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdnftm1Rosl mutation (0 available); any Gdnf mutation (18 available)
Slit2tm1Matl mutation (2 available); any Slit2 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• 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 Slit2tm1Matl 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




Genotype
MGI:3588573
cx6
Allelic
Composition
Gdnftm1Rosl/Gdnftm1Rosl
Nrtntm1Jmi/Nrtntm1Jmi
Genetic
Background
involves: 129S2/SvPas * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdnftm1Rosl mutation (0 available); any Gdnf mutation (18 available)
Nrtntm1Jmi mutation (1 available); any Nrtn mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• severe intestinal aganglionosis, similar to that seen in single homozygous Gdnftm1Rosl mice




Genotype
MGI:3588574
cx7
Allelic
Composition
Gdnftm1Rosl/Gdnf+
Nrtntm1Jmi/Nrtntm1Jmi
Genetic
Background
involves: 129S2/SvPas * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdnftm1Rosl mutation (0 available); any Gdnf mutation (18 available)
Nrtntm1Jmi mutation (1 available); any Nrtn mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• decrease in both longitudinal and circular muscle contraction of the intestine in response to electric field stimulation

nervous system
• 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 Nrtntm1Jmi mice
• 70-95% reduction in substance P and VIP release

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




Genotype
MGI:3588576
cx8
Allelic
Composition
Baxtm1Sjk/Baxtm1Sjk
Gdnftm1Rosl/Gdnf+
Genetic
Background
involves: 129S2/SvPas * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Baxtm1Sjk mutation (1 available); any Bax mutation (24 available)
Gdnftm1Rosl mutation (0 available); any Gdnf mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 32-33% and 43-48% reduction in submucosal and myenteric neurons, respectively, similar to that seen in single heterozygous Gdnf mutants




Genotype
MGI:3588577
cx9
Allelic
Composition
Bidtm1Sjk/Bidtm1Sjk
Gdnftm1Rosl/Gdnf+
Genetic
Background
involves: 129S2/SvPas * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bidtm1Sjk mutation (1 available); any Bid mutation (44 available)
Gdnftm1Rosl mutation (0 available); any Gdnf mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 32-33% and 43-48% reduction in submucosal and myenteric neurons, respectively, similar to that seen in single heterozygous Gdnf mutants




Genotype
MGI:3715481
cx10
Allelic
Composition
Gdnftm1Rosl/Gdnf+
Itga8tm1Lfr/Itga8tm1Lfr
Genetic
Background
involves: 129S2/SvPas * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdnftm1Rosl mutation (0 available); any Gdnf mutation (18 available)
Itga8tm1Lfr mutation (2 available); any Itga8 mutation (74 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• only kidney observed is highly dysplastic
• 95% kidney agenesis incidence; only 1 kidney is found in total in 11 animals




Genotype
MGI:3715482
cx11
Allelic
Composition
Gdnftm1Rosl/Gdnf+
Itga8tm1Lfr/Itga8+
Genetic
Background
involves: 129S2/SvPas * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdnftm1Rosl mutation (0 available); any Gdnf mutation (18 available)
Itga8tm1Lfr mutation (2 available); any Itga8 mutation (74 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• 53% kidney agenesis incidence





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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory