Phenotypes associated with this allele

• Allele Symbol: Ift56^hop-hpy
• Allele Name: hydrocephalic polydactyl
• Allele ID: MGI:1856055
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ift56^hop-hpy/Ift56^hop-hpy	Not Specified	MGI:3041397
cx2	Ift56^hop-hpy/Ift56^hop-hpy Oca2^p-s/Oca2^p-s	Not Specified	MGI:3041444

Genotype
MGI:3041397

hm1

• Allelic Composition: Ift56^hop-hpy/Ift56^hop-hpy
• Genetic Background: Not Specified

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

mortality/aging

premature death ( J:14943 , J:64255 )

• homozygous mutants have higher mortality compared to wild-type littermates (J:14943)

• hydrocephalic mice die before maturity (J:64255)

postnatal lethality, incomplete penetrance ( J:11949 )

• homozygous mutants with severe hydrocephaly die within 2 weeks of birth

behavior/neurological

abnormal gait ( J:11949 , J:14943 )

• homozygotes display a hopping gait in which the hind legs are move simultaneously (J:11949)

endocrine/exocrine glands

abnormal Sertoli cell morphology ( J:5829 )

♂ • cytoplasmic intrusions of the Sertoli cells into the developing spermatids are seen in mutants

♂ • many late stage spermatids are engulfed by Sertoli cells

growth/size/body

decreased body size ( J:14943 )

• homozygous mutants grow less rapidly compared to wild-type littermates

limbs/digits/tail

polydactyly ( J:14943 )

• pre-axial polydactyly of varying severity that involves the pollex and hallux is seen in most homozygous mutants

reproductive system

teratozoospermia ( J:5829 , J:14943 )

♂ (J:5829)

♂ • no normal sperm are found in the seminiferous tubules (J:14943)

abnormal Sertoli cell morphology ( J:5829 )

♂ • cytoplasmic intrusions of the Sertoli cells into the developing spermatids are seen in mutants

♂ • many late stage spermatids are engulfed by Sertoli cells

abnormal spermiogenesis ( J:5829 , J:14943 )

♂ • during the nuclear elongation phase distortion of the acrosomal cap and nuclear region develop (J:5829)

♂ • no structurally complete flagella are seen on sperm from mutants (J:5829)

♂ • significantly more multinucleated spermatids are seen in mutants (J:5829)

♂ • flagella are absent from and elongated heads are seen on sperm from homozygous mutants (J:14943)

male infertility ( J:5829 , J:14943 , J:64255 )

♂ • males are completely sterile (J:5829)

♂ • males are completely sterile and have a reduced interest in mating (J:14943)

♂ (J:64255)

skeleton

scoliosis ( J:14943 )

• mutants with more a severely abnormal gait and obvious polydactyly tend to develop scoliosis as they age probably as a result of connective tissue dysfunction and not skeletal abnormalities

nervous system

hydrocephaly ( J:11949 , J:14943 , J:64255 )

• hydrocephaly results in distortion of the hemispheres of the cortex, olfactory lobes, corpus callosum, and diencephalon and edema in the white matter of the hemispheres (J:11949)

• progressive dilation of the ventricles beginning as early as P3 is seen in some mutants (J:11949)

• abnormalities are found in the ependymal cells lining the ventricles (J:11949)

• hydrocephaly becomes evident around 2 weeks of age with the cerebral region being most affected (J:14943)

cellular

teratozoospermia ( J:5829 , J:14943 )

♂ (J:5829)

♂ • no normal sperm are found in the seminiferous tubules (J:14943)

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