Phenotypes associated with this allele

• Allele Symbol: Pax6^tm1Pgr
• Allele Name: targeted mutation 1, Peter Gruss
• Allele ID: MGI:1934347
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax6^tm1Pgr/Pax6^tm1Pgr	involves: 129S1/Sv * 129X1/SvJ	MGI:2386628
hm2	Pax6^tm1Pgr/Pax6^tm1Pgr	involves: 129S1/Sv * 129X1/SvJ * NMRI	MGI:2175209
ht3	Pax6^tm1Pgr/Pax6^+	involves: 129S1/Sv * 129X1/SvJ	MGI:2386629
cn4	Pax6^tm1Pgr/Pax6^tm2Pgr Tg(Pax6-cre,GFP)1Pgr/0	involves: 129S1/Sv * 129X1/SvJ * FVB * NMRI	MGI:3045795

Genotype
MGI:2386628

hm1

• Allelic Composition: Pax6^tm1Pgr/Pax6^tm1Pgr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

nervous system

abnormal ventral interneuron morphology ( J:106437 )

abnormal ventral interneuron 0 morphology ( J:106437 )

• increase in the number of commissural V0 neurons in the spinal cord

abnormal ventral interneuron 1 morphology ( J:106437 )

• decrease in the number of V1 neurons

abnormal ventral interneuron 3 morphology ( J:106437 )

• increase in the number of commissural V3 neurons in the spinal cord

abnormal neuron physiology ( J:106437 )

• motor neurons show prolonged periods of membrane depolarization and continue to fire action potentials throughout the depolarized phase

abnormal CNS synaptic transmission ( J:106437 )

• significant increase in the length of both step cycle period and motor neuron burst duration during fictive locomotion

• decrease in sensitivity to NMDA and 5-hydroxytryptamine induced locomotor like activity in the spinal cord

Genotype
MGI:2175209

hm2

• Allelic Composition: Pax6^tm1Pgr/Pax6^tm1Pgr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * NMRI

mortality/aging

neonatal lethality, complete penetrance ( J:40439 )

• animals die shortly after birth

nervous system

absent olfactory bulb ( J:40439 )

vision/eye

anophthalmia ( J:40439 )

endocrine/exocrine glands

absent pancreatic alpha cells ( J:40439 )

• absence is suggested by the absence of glucagon-producing cells in the exocrine pancreas

disorganized pancreatic islets ( J:40439 )

• cells fail to form distinct islets and remained disorganized through the pancreatic exocrine tissue

• endocrine cells normally found at the periphery of islets are seen mixed with beta cells

Genotype
MGI:2386629

ht3

• Allelic Composition: Pax6^tm1Pgr/Pax6⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

vision/eye

abnormal iridocorneal angle ( J:163191 )

• the iris root completely covers the peripheral cornea to occlude the iridocorneal angle

anterior iris synechia ( J:163191 )

• iridocorneal adhesions are present in the region of the pupil

fused cornea and lens ( J:163191 )

• lens is attached to the cornea

absent eye anterior chamber ( J:163191 )

• anterior chamber is largely absent

Genotype
MGI:3045795

cn4

• Allelic Composition: Pax6^tm1Pgr/Pax6^tm2Pgr; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB * NMRI

mortality/aging

postnatal lethality, complete penetrance ( J:90642 )

• most mutant pups die 3 - 6 days after birth with an overt diabetic phenotype

endocrine/exocrine glands

decreased pancreatic alpha cell number ( J:90642 )

• very few alpha cells are seen

decreased pancreatic beta cell number ( J:90642 )

• the number of insulin-expressing cells is decreased

growth/size/body

postnatal growth retardation ( J:90642 )

• 2 - 6 days after birth mutant pups develop severe growth retardation

homeostasis/metabolism

hyperglycemia ( J:90642 )

• 2 - 6 days after birth mutant pups develop hyperglycemia

decreased circulating insulin level ( J:90642 )

• 2 - 6 days after birth mutant pups develop hypoinsulinemia with insulin levels in the pancrease at 18% of normal on P1 and 6% of normal on P3

increased circulating ketone body level ( J:90642 )

• at P3 ketones are seen in all mutants with glucose levels above 20mM

vision/eye

absent optic placodes ( J:65765 )

• lens induction occurs but no thickening or invagination of the surface ectoderm is seen indicating that the lens placode fails to form

abnormal optic cup morphology ( J:65765 )

• the optic cup does not form; however, at E11 multiple folds are seen in the neuroretina each developing into a separate retina domain

abnormal optic vesicle formation ( J:65765 )

• at E10 - E10.5 invagination of the distal wall of the optic vesicle does not occur