Phenotypes associated with this allele

• Allele Symbol: Gdnf^tm2Bbd
• Allele Name: targeted mutation 2, Mariano Barbacid
• Allele ID: MGI:2136845
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gdnf^tm2Bbd/Gdnf^tm2Bbd	involves: 129S1/Sv * C57BL/6	MGI:3588423
ht2	Gdnf^tm2Bbd/Gdnf^+	involves: 129S1/Sv * C57BL/6	MGI:3588424
cx3	Gdnf^tm2Bbd/Gdnf^+ Spry1^tm1.1Jdli/Spry1^tm1.1Jdli	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6J * FVB/N	MGI:3574646

Genotype
MGI:3588423

hm1

• Allelic Composition: Gdnf^tm2Bbd/Gdnf^tm2Bbd
• 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:3588424

ht2

• Allelic Composition: Gdnf^tm2Bbd/Gdnf⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6

renal/urinary system

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:3574646

cx3

• Allelic Composition: Gdnf^tm2Bbd/Gdnf⁺; Spry1^tm1.1Jdli/Spry1^tm1.1Jdli
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6J * FVB/N

renal/urinary system

abnormal kidney development ( J:96485 )

• only 25% (4 of 16) mice exhibit abnormal kidney development versus about 92% (12 of 13) littermates homozygous Spry1^tm1.1Jdli alone, indicating a ~75% reduction in the occurrence of kidney and urinary tract defects (CAKUT)