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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Nfiatm1Rmg
targeted mutation 1, Richard M Gronostajski
MGI:2449024
Summary 8 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Nfiatm1Rmg/Nfiatm1Rmg B6.129P2-Nfiatm1Rmg MGI:3719701
hm2
 		Nfiatm1Rmg/Nfiatm1Rmg involves: 129P2/OlaHsd * Black Swiss MGI:2653057
hm3
 		Nfiatm1Rmg/Nfiatm1Rmg involves: 129P2/OlaHsd * C57BL/6 MGI:2654631
hm4
 		Nfiatm1Rmg/Nfiatm1Rmg involves: 129P2/OlaHsd * C57BL/6N MGI:3713842
ht5
 		Nfiatm1Rmg/Nfia+ involves: 129P2/OlaHsd * Black Swiss MGI:2653058
ht6
 		Nfiatm1Rmg/Nfia+ involves: 129P2/OlaHsd * C57BL/6 MGI:3767252
cx7
 		Nfiatm1Rmg/Nfiatm1Rmg
Tg(Hoxb7-EGFP)33Cos/? 		involves: 129P2/OlaHsd * C57BL/6 * CBA MGI:3767253
cx8
 		Nfiatm1Rmg/Nfia+
Tg(Hoxb7-EGFP)33Cos/? 		involves: 129P2/OlaHsd * C57BL/6 * CBA MGI:3767254


Genotype
MGI:3719701
hm1
Allelic
Composition		 Nfiatm1Rmg/Nfiatm1Rmg
Genetic
Background		 B6.129P2-Nfiatm1Rmg
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfiatm1Rmg mutation (1 available); any Nfia mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Absence of corpus callosum in Nfiatm1Rmg/Nfiatm1Rmg mice

mortality/aging
postnatal lethality, incomplete penetrance ( J:58137 )
• more than 90% die postnatally

nervous system
abnormal axon extension ( J:81202 )
• although callosal axons approach the midline, they fail to cross and extend aberrantly into the septum
• overlap of the axons in the corpus callosum and fornix and the corpus callosum and the hippocampal commissure
abnormal corpus callosum morphology ( J:81202 )
• sling cells, which contribute to the development of the corpus callosum, are generated but migrate abnormally into the septum and do not form a sling
absent corpus callosum ( J:58137 )
• in E18 mice and adults
abnormal hippocampal commissure morphology ( J:81202 )
• hippocampal commissure is absent or reduced
abnormal hippocampus morphology ( J:81202 )
• glia within the hippocampus, particularly the dentate gyrus and the fimbria are reduced
abnormal glial cell morphology ( J:81202 )
• glia within the indusium griseum and the glial wedge are greatly reduced or absent
• glia within the hippocampus, particularly the dentate gyrus and the fimbria are reduced
• formation of the midline zipper glial population is disrupted, with glia either absent or shifted position
• glial tunnel is greatly reduced surrounding a smaller anterior commissure

cellular
abnormal axon extension ( J:81202 )
• although callosal axons approach the midline, they fail to cross and extend aberrantly into the septum
• overlap of the axons in the corpus callosum and fornix and the corpus callosum and the hippocampal commissure




Genotype
MGI:2653057
hm2
Allelic
Composition		 Nfiatm1Rmg/Nfiatm1Rmg
Genetic
Background		 involves: 129P2/OlaHsd * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfiatm1Rmg mutation (1 available); any Nfia mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Hydrocephalus in Nfiatm1Rmg/Nfiatm1Rmg mice

mortality/aging
postnatal lethality, incomplete penetrance ( J:58137 )
• about 95% die within 2 weeks of birth, with most dying on the day of birth

growth/size/body
abnormal head shape ( J:58137 )
• the rare survivors have a domed head, however this phenotype diminishes with time and adults appear relatively normal
decreased body size ( J:58137 )
• the rare survivors are runted for the first two weeks of life

nervous system
hydrocephaly ( J:58137 )
• survivors display hydrocephalus, however this phenotype diminishes with time in most mutants except for a few rare adults that exhibit severe hydrocephalus
dilated lateral ventricle ( J:58137 )
• rare adults show dilation of the lateral ventricles
dilated third ventricle ( J:58137 )
• rare adults show dilation of the third ventricles
absent corpus callosum ( J:58137 )
• in E18 mice and adults

behavior/neurological
tremors ( J:58137 )
• rare surviving mice possess a tremor

reproductive system
reduced female fertility ( J:58137 )
• surviving females have low fecundity but are able to give birth and suckle young
male infertility ( J:58137 )
• adult males appear sterile, however histological examination of testes reveals no gross abnormalities

craniofacial
abnormal head shape ( J:58137 )
• the rare survivors have a domed head, however this phenotype diminishes with time and adults appear relatively normal




Genotype
MGI:2654631
hm3
Allelic
Composition		 Nfiatm1Rmg/Nfiatm1Rmg
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfiatm1Rmg mutation (1 available); any Nfia mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Spectrum of kidney histology in Nfiatm1Rmg/Nfiatm1Rmg newborns

nervous system
syringomyelia ( J:122749 )
• 66% of newborns exhibit syringomyelia that is manifested as an enlarged central canal and confined to the lumbar region

renal/urinary system
abnormal kidney morphology ( J:122749 )
• 68% of newborns display agenesis, dysplastic, cystic, or duplex kidneys
kidney cyst ( J:122749 )
• in some newborns
hydronephrosis ( J:122749 )
• two mice that survive to P16 develop severe hydronephrosis
absent kidney ( J:122749 )
• some newborns exhibit bilateral renal agenesis
duplex kidney ( J:122749 )
• in some newborns
dilated ureter ( J:122749 )
• newborns exhibit duplication and dilatation of the ureter at the ureteropelvic junction
double ureter ( J:122749 )
• newborns exhibit duplication and dilatation of the ureter at the ureteropelvic junction

growth/size/body
kidney cyst ( J:122749 )
• in some newborns




Genotype
MGI:3713842
hm4
Allelic
Composition		 Nfiatm1Rmg/Nfiatm1Rmg
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfiatm1Rmg mutation (1 available); any Nfia mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:121963 )
• mice survive until P20

nervous system
abnormal cerebellar foliation ( J:121963 )
• at P17, mice exhibit a deformed foliation pattern whereby fissures are reduced in depth and lobules are either stunted or poorly defined
abnormal cerebellar granule cell morphology ( J:121963 )
• at P17, dendrite formation is dramatically impaired on cerebrellar granule neurons (GCNs) through out the inner granule layer of more anterior lobules
• GCN nuclei are observed in the molecular layer
abnormal cerebellar molecular layer ( J:121963 )
• at P17, molecular layer axons are extremely short through both anterior and posterior aspects of the vermis
• GCN nuclei are observed in the molecular layer




Genotype
MGI:2653058
ht5
Allelic
Composition		 Nfiatm1Rmg/Nfia+
Genetic
Background		 involves: 129P2/OlaHsd * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfiatm1Rmg mutation (1 available); any Nfia mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
maternal effect ( J:58137 )
• loss of heterozygous progeny is seen only when the mutant allele is transmitted from the female parent, suggesting a maternal effect




Genotype
MGI:3767252
ht6
Allelic
Composition		 Nfiatm1Rmg/Nfia+
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfiatm1Rmg mutation (1 available); any Nfia mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Ureter defects in Nfiatm1Rmg/Nfiatm1Rmg and Nfiatm1Rmg/Nifia+ mice

renal/urinary system
hydronephrosis ( J:122749 )
• 22% of newborns exhibit hydronephrosis
dilated ureter ( J:122749 )
• newborns exhibit duplication and dilatation of the ureter at the ureteropelvic junction
double ureter ( J:122749 )
• newborns exhibit duplication and dilatation of the ureter at the ureteropelvic junction
abnormal ureterovesical junction morphology ( J:122749 )
• some newborns exhibit dilation of the ureterovesical junction




Genotype
MGI:3767253
cx7
Allelic
Composition		 Nfiatm1Rmg/Nfiatm1Rmg
Tg(Hoxb7-EGFP)33Cos/?
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfiatm1Rmg mutation (1 available); any Nfia mutation (28 available)
Tg(Hoxb7-EGFP)33Cos mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Nfiatm1Rmg/Nfia+ Tg(Hoxb7-EGFP)33Cos and Nfiatm1Rmg/Nfiatm1Rmg Tg(Hoxb7-EGFP)33Cos mice have ureteral defects

renal/urinary system
abnormal kidney morphology ( J:122749 )
• dysplastic kidney
abnormal ureter development ( J:122749 )
• 33% of mutants exhibit ureteral development abnormalities, that include proximal flexion of the ureter and ureter dilation




Genotype
MGI:3767254
cx8
Allelic
Composition		 Nfiatm1Rmg/Nfia+
Tg(Hoxb7-EGFP)33Cos/?
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfiatm1Rmg mutation (1 available); any Nfia mutation (28 available)
Tg(Hoxb7-EGFP)33Cos mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Nfiatm1Rmg/Nfia+ Tg(Hoxb7-EGFP)33Cos and Nfiatm1Rmg/Nfiatm1Rmg Tg(Hoxb7-EGFP)33Cos mice have ureteral defects

renal/urinary system
abnormal ureter development ( J:122749 )
• 22% exhibit ureteral development abnormalities that include ureter dilation and partial ureteral duplication




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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory