Phenotypes associated with this allele

• Allele Symbol: Gdnf^tm1Bbd
• Allele Name: targeted mutation 1, Mariano Barbacid
• Allele ID: MGI:2136844
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gdnf^tm1Bbd/Gdnf^tm1Bbd	involves: 129S1/Sv * C57BL/6	MGI:3588421
ht2	Gdnf^tm1Bbd/Gdnf^+	involves: 129S1/Sv * C57BL/6	MGI:3588422
cn3	Gdnf^tm1Bbd/Gdnf^tm1.1Neas Egr3^tm1(cre)Mod/Egr3^+	involves: 129S1/Sv * C57BL/6 * C57BL/6J * SJL	MGI:4456170
cn4	Gdnf^tm1Bbd/Gdnf^tm1Jlob Tg(CAG-cre/Esr1*)5Amc/0	involves: 129S1/Sv * C57BL/6 * CBA	MGI:3809283
cx5	Gdnf^tm1Bbd/Gdnf^+ Spry1^tm1.1Jdli/Spry1^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5553082

Genotype
MGI:3588421

hm1

• Allelic Composition: Gdnf^tm1Bbd/Gdnf^tm1Bbd
• Genetic Background: involves: 129S1/Sv * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:33809 )

• die within the first day of life

renal/urinary system

absent kidney ( J:33809 )

abnormal ureteric bud invasion ( J:33809 )

• in mutant mice that do develop a ureteric bud, the bud never invades the metanepric mesenchyme

absent ureteric bud ( J:33809 )

• many mutant mice do not develop the ureteric bud

digestive/alimentary system

distended duodenum ( J:33809 )

• dilated duodenum, however the gonads and adrenal glands develop normally

pyloric stenosis ( J:33809 )

nervous system

absent enteric neurons ( J:33809 )

• no enteric neurons detected in the lower esophagus, stomach, small intestine or colon in newborns

abnormal superior cervical ganglion morphology ( J:33809 )

• 20% reduction in volume of superior cervical ganglion neurons

decreased motor neuron number ( J:33809 )

• 21% decrease in motor neuron number in the trigeminal motor nucleus

• 31% decrease in motor neuron number in the L4-L5 levels of the spinal cord, however no differences in facial motor neurons are observed

Genotype
MGI:3588422

ht2

• Allelic Composition: Gdnf^tm1Bbd/Gdnf⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6

renal/urinary system

small kidney ( J:206853 )

• animals show renal hypoplasia at birth

absent kidney ( J:33809 )

• 14% of mice have no kidneys

single kidney ( J:33809 )

• 18% of mice exhibit one kidney

absent ureteric bud ( J:33809 )

• either unilateral or a complete lack of ureteric bud development

Genotype
MGI:4456170

cn3

• Allelic Composition: Gdnf^tm1Bbd/Gdnf^tm1.1Neas; Egr3^tm1(cre)Mod/Egr3⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6 * C57BL/6J * SJL

nervous system

abnormal cholinergic neuron morphology ( J:160727 )

• at P20, mice exhibit a decrease in small cholinergic motor neurons compared with wild-type mice

decreased motor neuron number ( J:160727 )

• at P20, mice exhibit a decrease in small cholinergic motor neurons compared with wild-type mice

• mice exhibit selective loss of gamma-motor neurons compared with wild-type mice

Genotype
MGI:3809283

cn4

• Allelic Composition: Gdnf^tm1Bbd/Gdnf^tm1Jlob; Tg(CAG-cre/Esr1*)5Amc/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

nervous system

abnormal brain morphology ( J:139371 )

• tamoxifen treatment leads to the death of catecholaminergic neurons in the brain

abnormal substantia nigra morphology ( J:139371 )

• 210 days after tamoxifen treatment, there is a substantial lose (about 50%) of tyrosine hydroxylase positive neurons in the substantia nigra adult mice

• there is also a drop in the total number of neurons in the substantia nigra after tamoxifen treatment

abnormal tegmentum morphology ( J:139371 )

• 210 days after tamoxifen treatment, there is a substantial lose (about 2.5-fold) of tyrosine hydroxylase positive neurons in the ventral tegmentum of adult mice

• there is also a drop in the total number of neurons in the ventral tegmentum after tamoxifen treatment

abnormal locus ceruleus morphology ( J:139371 )

• neurons are diminished in the locus ceruleus 210 days after tamoxifen treatment

abnormal dorsal striatum morphology ( J:139371 )

• fiber density of tyrosine hydroxylase positive neurons are diminished 210 days after tamoxifen treatment

abnormal ventral striatum morphology ( J:139371 )

• fiber density of tyrosine hydroxylase positive neurons are diminished 210 days after tamoxifen treatment

behavior/neurological

decreased locomotor activity ( J:139371 )

• 100 days after tamoxifen injection, mice have reduced activity in open field tests with about 25% less activity

• resting time of mice in open field tests increases significantly 100 days after tamoxifen treatment

• this hypoactivity worsens with the passage of time

cardiovascular system

abnormal carotid body morphology ( J:139371 )

• tyrosine hydroxylase positive neurons are diminished by more than half 210 days after tamoxifen-treatment

Genotype
MGI:5553082

cx5

• Allelic Composition: Gdnf^tm1Bbd/Gdnf⁺; Spry1^tm1.1Jdli/Spry1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

renal/urinary system

renal/urinary system phenotype ( J:206853 )

N • at E19.5, double heterozygous animals show full rescue of the renal hypoplasia seen in Gdnf^tm1Bbd heterozygotes