All Phenotypes Gfra1<tm2Jmi> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Gfra1^tm2Jmi/Gfra1^{tm1(cre/ERT2)Sjn}	involves: 129X1/SvJ * C57BL/6	MGI:5514421
cn2	Gfra1^tm2Jmi/Gfra1^tm2Jmi Mnx1^tm4(cre)Tmj/Mnx1⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:3783345
cn3	Gfra1^tm1Jmi/Gfra1^tm2Jmi Tg(CAG-cre/Esr1*)5Amc/0	involves: 129/Sv * C57BL/6 * CBA * SJL	MGI:3715267
cn4	Gfra1^tm2Jmi/Gfra1^tm3Jmi Tg(Hoxb7-cre)13Amc/0	involves: 129X1/SvJ * C57BL/6	MGI:5514419

Allelic Composition	Gfra1^tm2Jmi/Gfra1^{tm1(cre/ERT2)Sjn}
Genetic Background	involves: 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gfra1^{tm1(cre/ERT2)Sjn} mutation (0 available); any Gfra1 mutation (31 available)
Gfra1^tm2Jmi mutation (0 available); any Gfra1 mutation (31 available)

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

renal/urinary system

small kidney ( J:199323 )

• when pregnant females are treated with tamoxifen at E11.5-12.5, fetuses analyzed at E16.5-17.5 showed a 20% reduction in kidney size relative to controls but kidneys did have a well defined cortex and medulla

abnormal ureteric bud morphology ( J:199323 )

• when pregnant females are treated with tamoxifen at E11.5-12.5, fetuses analyzed at E14.5 or E16.5-17.5 showed a small but significant reduction in the number or ureteric bud (UB) tips

• these kidneys had dilated ureteric bud ampullae

abnormal branching involved in ureteric bud morphogenesis ( J:199323 )

• in tamoxifen treated explant cultures, at 72 hours, a 16% decrease in number of ureteric bud tips is observed; beginning at 48 hours in culture, a 25% reduction in relative surface area is measured compared to controls

abnormal ureteric bud tip morphology ( J:199323 )

• in mutants from tamoxifen treated females, UB tip mitotic index (cell proliferation) is reduced relative to controls; levels of apoptosis are not different

Allelic Composition	Gfra1^tm2Jmi/Gfra1^tm2Jmi Mnx1^tm4(cre)Tmj/Mnx1⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gfra1^tm2Jmi mutation (0 available); any Gfra1 mutation (31 available)
Mnx1^tm4(cre)Tmj mutation (2 available); any Mnx1 mutation (28 available)

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

nervous system

decreased motor neuron number ( J:132854 )

• loss of small diameter but not large diameter axons in lumbar ventral roots and in distal medial gastrocnemius nerve

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

nervous system

nervous system phenotype ( J:122607 )

N	• with 4-OHT treatment on E13.5 rather than E15.5, complete loss of enteric neurons in colon is still observed at E18.5, but no abnormalities in enteric ganglia of small intestine is seen

abnormal neuronal precursor proliferation ( J:122607 )

• fewer ENS progenitors are proliferating in the midgut at E13.5 in embryos treated with 4-OHT at E11.5 (12.2% vs 24% in controls)

abnormal enteric nervous system morphology ( J:122607 )

abnormal enteric ganglia morphology ( J:122607 )

• at E18.5, ganglion structure and innervation in the colon is completely disrupted relative to control mice with 4-OHT treatement at E15.5

• enteric ganglion cells die within 36 hours after 4-OHT treatment

absent enteric neurons ( J:122607 )

• with 4-OHT treatment on E15.5, enteric ganglia and neurons are lost in the colon by birth

abnormal nervous system development ( J:122607 )

• abnormal thick nerve bundles are observed in the colons of E18.5 embryos after 4-hydroxytamoxifen, 4-OHT treatment on E15.5; this are likely un-defasciculated extrinsic nerve fibers

cellular

abnormal cell nucleus morphology ( J:122607 )

• nuclei of dying ganglion cells in mutants display numerous indentations in nuclear membrane, some with abnormal constriction of the nuclear membrane resulting in multilobation of the nuclei

• cells are shrunken with condensation of marginal heterochromatin and chromatin masses dispersed in the karyoplasms; diminuition of the cytoplasm and heterochromatin condensation in the nuclei are enhanced in ganglion cells in the myenteric layer

abnormal cell death ( J:122607 )

• enteric ganglion cells die within 36 hours of Gfra1 inactivation induced by 4-OHT treatment of pregnant females, but cell death is by mechanism other than apoptosis; enteric neuron death is not dependent on caspases or Bax

• some cells contain autolysosomes; almost no autophagosomes are detected in mutants at any stage of cell death

abnormal neuronal precursor proliferation ( J:122607 )

• fewer ENS progenitors are proliferating in the midgut at E13.5 in embryos treated with 4-OHT at E11.5 (12.2% vs 24% in controls)

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:122607

Allelic Composition	Gfra1^tm2Jmi/Gfra1^tm3Jmi Tg(Hoxb7-cre)13Amc/0
Genetic Background	involves: 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gfra1^tm2Jmi mutation (0 available); any Gfra1 mutation (31 available)
Gfra1^tm3Jmi mutation (0 available); any Gfra1 mutation (31 available)
Tg(Hoxb7-cre)13Amc mutation (2 available)

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

renal/urinary system

absent kidney ( J:199323 )

• at P0, most have bilateral kidney agenesis/aplasia (16/20)

single kidney ( J:199323 )

• at P0, a few pups (3/20) have unilateral kidney agenesis and contralateral megaureter

large ureter ( J:199323 )

• at P0, a few pups (3/20) have unilateral kidney agenesis and contralateral megaureter

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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