Phenotypes associated with this allele

• Allele Symbol: Gtf2a1^tm1.1Jjdh
• Allele Name: targeted mutation 1.1, James J Hsieh
• Allele ID: MGI:5565081
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gtf2a1^tm1.1Jjdh/Gtf2a1^tm1.1Jjdh	involves: 129X1/SvJ * C57BL/6	MGI:5565163

Genotype
MGI:5565163

hm1

• Allelic Composition: Gtf2a1^tm1.1Jjdh/Gtf2a1^tm1.1Jjdh
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:205038 )

• most die within a day of birth

• only account for 4.1% of mice at weaning

behavior/neurological

abnormal suckling behavior ( J:205038 )

• newborns display a feeding defect

reproductive system

reproductive system phenotype ( J:205038 )

♀N • most females are fertile

azoospermia ( J:205038 )

♂ • absence of mature spermatozoa in the epididymis

abnormal spermatid morphology ( J:205038 )

♂ • lack of elongating spermatids

increased male germ cell apoptosis ( J:205038 )

♂ • increase in apoptosis in the seminiferous tubules

abnormal testis morphology ( J:205038 )

♂ • microscopic defects are near identical to those in mice homozygous for Tasp1^tm1.1Jjdh

small seminiferous tubules ( J:205038 )

♂ • fewer germ cell layers are present

decreased testis weight ( J:205038 )

♂ • weight is 51% that of wild-type littermates

arrest of spermiogenesis ( J:205038 )

♂ • differentiation block with markedly reduced elongating spermatids

male infertility ( J:205038 )

♂ • 8 of 13 males are infertile, the remaining 5 are able to sire litters

endocrine/exocrine glands

abnormal testis morphology ( J:205038 )

♂ • microscopic defects are near identical to those in mice homozygous for Tasp1^tm1.1Jjdh

small seminiferous tubules ( J:205038 )

♂ • fewer germ cell layers are present

decreased testis weight ( J:205038 )

♂ • weight is 51% that of wild-type littermates

cellular

azoospermia ( J:205038 )

♂ • absence of mature spermatozoa in the epididymis

abnormal spermatid morphology ( J:205038 )

♂ • lack of elongating spermatids

increased male germ cell apoptosis ( J:205038 )

♂ • increase in apoptosis in the seminiferous tubules