Phenotypes associated with this allele

• Allele Symbol: Oca2^p-s
• Allele Name: pink-eyed dilution sterile
• Allele ID: MGI:1856122
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Oca2^p-s/Oca2^p-s	Not Specified	MGI:3041455
cx2	Ift56^hop-hpy/Ift56^hop-hpy Oca2^p-s/Oca2^p-s	Not Specified	MGI:3041444

Genotype
MGI:3041455

hm1

• Allelic Composition: Oca2^p-s/Oca2^p-s
• Genetic Background: Not Specified

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

mortality/aging

premature death ( J:12939 )

• most homozygous mice survive less than 1 year

pigmentation

decreased eye pigmentation ( J:12939 )

behavior/neurological

abnormal motor coordination/balance ( J:12939 )

• homozygotes appear slightly uncoordinated and nervous

abnormal maternal nurturing ( J:12939 )

♀ • homozygous mothers are unable to raise pups

growth/size/body

decreased body size ( J:12939 )

• homozygous mutants average 2/3 the size of wild-type littermates

reproductive system

teratozoospermia ( J:12939 )

♂ • motile sperm with abnormal heads are seen in homozygous males

abnormal spermiogenesis ( J:12939 )

♂ • spermiogenesis is normal through meiosis however acrosome formation is defective with many sperm lacking acrosomes found in homozygous males

male infertility ( J:12939 )

♂ • males are completely sterile

vision/eye

decreased eye pigmentation ( J:12939 )

cellular

teratozoospermia ( J:12939 )

♂ • motile sperm with abnormal heads are seen in homozygous males

Genotype
MGI:3041444

cx2

• Allelic Composition: Ift56^hop-hpy/Ift56^hop-hpy; Oca2^p-s/Oca2^p-s
• Genetic Background: Not Specified

mortality/aging

premature death ( J:89544 )

• half of the surviving double homozygotes die before reaching sexual maturity

postnatal lethality, incomplete penetrance ( J:89544 )

• even after removal of wild-type littermates most double homozygous mutants die within 7 - 10 days of birth

reproductive system

teratozoospermia ( J:89544 )

♂ • no normal sperm are found in the seminiferous tubules

abnormal spermiogenesis ( J:89544 )

♂ • most of the head and tail deformities seen in the single homozygotes are also seen in the double homozygotes including absence of structurally complete flagella (as in hop^hpy single homozygotes) and nuclear abnormalities (as in p^s single homozygotes)

♂ • significantly more multinucleated spermatids are seen in mutants compared to wild-type littermates

male infertility ( J:89544 )

♂ • males are completely sterile

cellular

teratozoospermia ( J:89544 )

♂ • no normal sperm are found in the seminiferous tubules