Phenotypes associated with this allele

• Allele Symbol: Pax6^Sey-H
• Allele Name: small eye, Harwell
• Allele ID: MGI:1856156
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax6^Sey-H/Pax6^Sey-H	involves: 101/H * C3H/HeH	MGI:2175205
ht2	Pax6^Sey-H/Pax6^+	involves: 101/H * C3H/HeH	MGI:2175206
ht3	Pax6^Sey/Pax6^Sey-H	involves: 101/H * C3H/HeH * C57BL/10	MGI:3767472

Genotype
MGI:2175205

hm1

• Allelic Composition: Pax6^Sey-H/Pax6^Sey-H
• Genetic Background: involves: 101/H * C3H/HeH

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

mortality/aging

embryonic lethality, complete penetrance ( J:8534 )

• mice die either before and after implantation with the exact timing of lethality unknown

Genotype
MGI:2175206

ht2

• Allelic Composition: Pax6^Sey-H/Pax6⁺
• Genetic Background: involves: 101/H * C3H/HeH

reproductive system

reduced female fertility ( J:8534 )

♀ • females are poor breeders

♀ • however, some embryo death may be associated with prenatal lethality

vision/eye

coloboma ( J:8534 )

• mice often develop coloboma visible by day 14

microphthalmia ( J:8534 )

hearing/vestibular/ear

lowered ear position ( J:8534 )

• one or both ears

small ears ( J:8534 )

• one or both ears

growth/size/body

lowered ear position ( J:8534 )

• one or both ears

small ears ( J:8534 )

• one or both ears

decreased body size ( J:8534 )

• at 2.5 weeks mice are smaller than normal

craniofacial

lowered ear position ( J:8534 )

• one or both ears

small ears ( J:8534 )

• one or both ears

pigmentation

belly spot ( J:8534 )

• some mice may have a white belly spot or streak

integument

belly spot ( J:8534 )

• some mice may have a white belly spot or streak

Genotype
MGI:3767472

ht3

• Allelic Composition: Pax6^Sey/Pax6^Sey-H
• Genetic Background: involves: 101/H * C3H/HeH * C57BL/10

craniofacial

abnormal maxillary shelf morphology ( J:8534 )

• at E13.5, the maxillae are not fused and there is only a small bilobed protrusion in the frontonasal position that in some mice may fuse on one side

abnormal face development ( J:8534 )

• facial development is retarded compared to wild-type and Pax6^Sey homozygotes

absent snout ( J:8534 )

vision/eye

anophthalmia ( J:8534 )

• while small bleds are present in the area occupied by the eye they contain no brain involvement

embryo

decreased embryo size ( J:8534 )

• at E13.5, mice are smaller than wild-type and Pax6^sey homozygotes

skeleton

abnormal maxillary shelf morphology ( J:8534 )

• at E13.5, the maxillae are not fused and there is only a small bilobed protrusion in the frontonasal position that in some mice may fuse on one side

digestive/alimentary system

abnormal maxillary shelf morphology ( J:8534 )

• at E13.5, the maxillae are not fused and there is only a small bilobed protrusion in the frontonasal position that in some mice may fuse on one side

growth/size/body

abnormal maxillary shelf morphology ( J:8534 )

• at E13.5, the maxillae are not fused and there is only a small bilobed protrusion in the frontonasal position that in some mice may fuse on one side

abnormal face development ( J:8534 )

• facial development is retarded compared to wild-type and Pax6^Sey homozygotes

absent snout ( J:8534 )

decreased embryo size ( J:8534 )

• at E13.5, mice are smaller than wild-type and Pax6^sey homozygotes