Phenotypes associated with this allele

• Allele Symbol: Tg(Dct-cre)1Apdn
• Allele Name: transgene insertion 1, Ruth Ashery-Padan
• Allele ID: MGI:4358082
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Pax6^tm2Pgr/Pax6^tm2Pgr Tg(Dct-cre)1Apdn/0	involves: 129S1/Sv * 129X1/SvJ	MGI:4358211
cn2	Pax6^tm2Pgr/Pax6^+ Tg(CAG-EGFP,-Pax6*5a,-lacZ)1Stoy/0 Tg(Dct-cre)1Apdn/0	involves: 129S1/Sv * 129X1/SvJ	MGI:4358214
cn3	Pax6^tm2Pgr/Pax6^+ Tg(CAG-EGFP,-Pax6,-lacZ)1Stoy/0 Tg(Dct-cre)1Apdn/0	involves: 129S1/Sv * 129X1/SvJ	MGI:4358213
cn4	Pax6^tm2Pgr/Pax6^+ Tg(Dct-cre)1Apdn/0	involves: 129S1/Sv * 129X1/SvJ	MGI:4358212
cn5	Elp1^tm1.1Gilas/Elp1^tm1.1Gilas Tg(Dct-cre)1Apdn/0	involves: 129S7/SvEvBrd * C57BL/6J	MGI:6274313
cn6	Tg(CAG-EGFP,-Pax6,-lacZ)1Stoy/0 Tg(Dct-cre)1Apdn/0	Not Specified	MGI:4358216
cn7	Tg(CAG-EGFP,-Pax6*5a,-lacZ)1Stoy/0 Tg(Dct-cre)1Apdn/0	Not Specified	MGI:4358215

Genotype
MGI:4358211

cn1

• Allelic Composition: Pax6^tm2Pgr/Pax6^tm2Pgr; Tg(Dct-cre)1Apdn/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

vision/eye

abnormal retina pigment epithelium morphology ( J:152253 )

• reduced at E15.5

abnormal anterior eye segment morphology ( J:152253 )

• sub-capsular clusters of mesenchymal cells are found in anterior chamber

absent ciliary body ( J:152253 )

• almost or completely absent

abnormal iris morphology ( J:152253 )

• almost absent with only residual strands covering anterior surface of lens; persistence of short iris stump with complete lack of ciliary body (CB) structure is observed

iris hypoplasia ( J:152253 )

abnormal lens morphology ( J:152253 )

• lentoid shape is distorted

cataract ( J:152253 )

• lens is opaque

small lens ( J:152253 )

• lens is visibly smaller at E15.5

microphthalmia ( J:152253 )

• mutants have small eyes

retina hypoplasia ( J:152253 )

• retina is visibly smaller at E15.5

abnormal vitreous body morphology ( J:152253 )

• appears to protrude into anterior chamber in some eyes

increased opacity of vitreous body ( J:152253 )

• not transparent in some eyes

pigmentation

abnormal retina pigment epithelium morphology ( J:152253 )

• reduced at E15.5

Genotype
MGI:4358214

cn2

• Allelic Composition: Pax6^tm2Pgr/Pax6⁺; Tg(CAG-EGFP,-Pax6*5a,-lacZ)1Stoy/0; Tg(Dct-cre)1Apdn/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

vision/eye

abnormal iris morphology ( J:152253 )

• iris sphincter appearance is improved very slightly compared to Pax6^tm2Pgr/+; Tg(Dct-cre) animals

iris hypoplasia ( J:152253 )

• expression of transgenic Pax6 partially corrects iris length in Pax6^tm2Pgr/+; Tg(Dct-cre) animals (length is 73% of wild-type)

Genotype
MGI:4358213

cn3

• Allelic Composition: Pax6^tm2Pgr/Pax6⁺; Tg(CAG-EGFP,-Pax6,-lacZ)1Stoy/0; Tg(Dct-cre)1Apdn/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

vision/eye

abnormal ciliary body morphology ( J:152253 )

• ciliary body varies from normal in appearance to reduced folding compared to Pax6 ^tm2Pgr/+; Tg(Dct-cre)1Apdn animals

abnormal iris morphology ( J:152253 )

• iris sphincter appearance is significantly, but variably improved compared to Pax6 ^tm2Pgr/+; Tg(Dct-cre)1Apdn

iris hypoplasia ( J:152253 )

• expression of transgenic Pax6 corrects iris length almost completely in Pax6^tm2Pgr/+; Tg(Dct-cre)1Apdn animals (length is 92% of wild-type)

Genotype
MGI:4358212

cn4

• Allelic Composition: Pax6^tm2Pgr/Pax6⁺; Tg(Dct-cre)1Apdn/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

vision/eye

impaired pupillary reflex ( J:152253 )

• iris does not respond to pilocarpine

abnormal intraocular muscle morphology ( J:152253 )

• iris sphincter muscle is markedly atrophied

irregularly shaped pupil ( J:152253 )

• margins are abnormally smooth with lack of pupillary ruffs

mydriasis ( J:152253 )

iris hypoplasia ( J:152253 )

• severe; iris fails to enlongate resulting in enlarged pupils; length is about 47% of wild-type

muscle

abnormal intraocular muscle morphology ( J:152253 )

• iris sphincter muscle is markedly atrophied

behavior/neurological

impaired pupillary reflex ( J:152253 )

• iris does not respond to pilocarpine

Genotype
MGI:6274313

cn5

• Allelic Composition: Elp1^tm1.1Gilas/Elp1^tm1.1Gilas; Tg(Dct-cre)1Apdn/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

growth/size/body

decreased body size ( J:237480 )

• newborns are smaller

decreased body weight ( J:237480 )

• 2 month old mice have 20% lower body weight than wild-type mice

postnatal growth retardation ( J:237480 )

• mice exhibit developmental delays

behavior/neurological

abnormal postural reflex ( J:237480 )

• 3 month old mice show abnormal posturing when suspended by the tail

limb grasping ( J:237480 )

• 3 month old mice show limb-clasping when suspended by the tail

impaired coordination ( J:237480 )

• the gap between the two hindpaws when mice are lifted is much shorter than that of controls

increased thermal nociceptive threshold ( J:237480 )

• 3 month old mice exhibit less thermal perception of sensation in the hot plate analgesia test

digestive/alimentary system

abnormal intestinal peristalsis ( J:237480 )

• mice have brownish and enlarged, swollen intestines, indicating gastrointestinal dysmotility

muscle

abnormal intestinal peristalsis ( J:237480 )

• mice have brownish and enlarged, swollen intestines, indicating gastrointestinal dysmotility

nervous system

decreased brain weight ( J:237480 )

• brains weigh 25% less than control brains

abnormal sensory neuron innervation pattern ( J:237480 )

• nearly all peripheral dorsal root ganglion axonal projections are thinner in the forelimbs and the axon patterns are abnormal

• dorsal root ganglion neurites are on average 15% longer in the forelimbs and there are 21% more branches in neurites indicating axonal projection guidance defects

abnormal neurite morphology ( J:237480 )

• dorsal root ganglion neurites are on average 15% longer in the forelimbs and there are 21% more branches in neurites

• cultured dorsal root ganglia have more neurite outgrowth than control dorsal root ganglia, longer neurite processes, and excessive branching

• dorsal root ganglia explants treated with phosphatidylserine have less neurite outgrowth, shorter neurite processes and less branching per cell

abnormal dorsal root ganglion morphology ( J:237480 )

• 45% reduction in the average number of dorsal root ganglia and a 67% reduction in dorsal root ganglia area at E13.5

• nearly all peripheral dorsal root ganglion axonal projections are thinner in the forelimbs and the axon patterns are abnormal

• dorsal root ganglion neurites are on average 15% longer in the forelimbs and there are 21% more branches in neurites

• dorsal root ganglia show elevated HDAC6 levels, reduced acetylated alpha-tubulin, unstable microtubules, and impairment of axonal retrograde transport of nerve growth factor

dorsal root ganglion degeneration ( J:237480 )

• 45% reduction in the average number of dorsal root ganglia and a 67% reduction in dorsal root ganglia area at E13.5, indicating massive cell loss during embryonic development

small dorsal root ganglion ( J:237480 )

• dorsal root ganglia are smaller at E13.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Riley-Day syndrome		DOID:11589	OMIM:223900	J:237480

Genotype
MGI:4358216

cn6

• Allelic Composition: Tg(CAG-EGFP,-Pax6,-lacZ)1Stoy/0; Tg(Dct-cre)1Apdn/0
• Genetic Background: Not Specified

vision/eye

abnormal ciliary body morphology ( J:152253 )

• severe underfolding of ciliary body (CB) is observed in postnatal animals

• general atrophy of CB with flattened appearance of folds is detected under scanning electron microscopy observation

• the stromal and both epithelial layers normally found in the CB are present but atrophic and barely folded

abnormal iris morphology ( J:152253 )

• sphincter is significantly enlarged

Genotype
MGI:4358215

cn7

• Allelic Composition: Tg(CAG-EGFP,-Pax6*5a,-lacZ)1Stoy/0; Tg(Dct-cre)1Apdn/0
• Genetic Background: Not Specified

vision/eye

vision/eye phenotype ( J:152253 )

N • no structural aberrations of ciliary body is observed in mice expressing this Pax6 isoform

N • iris is indistinguishable from controls