Phenotypes associated with this allele

• Allele Symbol: Ebf2^tm1Ggc
• Allele Name: targeted mutation 1, Giacomo Consalez
• Allele ID: MGI:2446575
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ebf2^tm1Ggc/Ebf2^tm1Ggc	either: (involves: 129S2/SvPas * 129X1/SvJ) or (involves: 129S2/SvPas * C57BL/6J)	MGI:3820240

Genotype
MGI:3820240

hm1

• Allelic Composition: Ebf2^tm1Ggc/Ebf2^tm1Ggc
• Genetic Background: either: (involves: 129S2/SvPas * 129X1/SvJ) or (involves: 129S2/SvPas * C57BL/6J)

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

growth/size/body

decreased body weight ( J:80220 )

• weight reduced 50% at 30 days of age

postnatal growth retardation ( J:80220 )

• noticeably smaller than controls by 5 days of age

reproductive system

abnormal reproductive system morphology ( J:80220 )

abnormal ovary size ( J:80220 )

♀ • hypogonadal

abnormal testis morphology ( J:80220 )

♂ • reduced interstitial component

abnormal seminiferous tubule morphology ( J:80220 )

♂ • contain few dividing spermatogonia

testis hypoplasia ( J:80220 )

♂

abnormal epididymis morphology ( J:80220 )

♂ • contains few sperm cells

abnormal fertility/fecundity ( J:80220 )

• failure of both sexes to reproduce when mated to wild type

female infertility ( J:80220 )

• failure of both sexes to reproduce when mated to wild type

male infertility ( J:80220 )

• failure of both sexes to reproduce when mated to wild type

behavior/neurological

impaired coordination ( J:80220 )

• mildly uncoordinated

hunched posture ( J:80220 )

• both at rest and when walking

abnormal gait ( J:80220 )

• unsteady waddling gait

nervous system

abnormal hypothalamus morphology ( J:80220 )

• gonadotropin releasing hormone neurons fail to migrate from the nasal mesenchyme to the median eminence

• these neurons eventually degenerate

abnormal cerebellum morphology ( J:80220 )

abnormal sciatic nerve morphology ( J:80220 )

• hypomyelinated

• segmental demyelination

• axonal damage by age 15 days

abnormal hypothalamus secretion ( J:80220 )

• failure to secrete gonadotropin releasing hormone since the appropriate neurons are not present

decreased nerve conduction velocity ( J:80220 )

• reduced 40%

endocrine/exocrine glands

abnormal ovary size ( J:80220 )

♀ • hypogonadal

abnormal testis morphology ( J:80220 )

♂ • reduced interstitial component

abnormal seminiferous tubule morphology ( J:80220 )

♂ • contain few dividing spermatogonia

testis hypoplasia ( J:80220 )

♂