Phenotypes associated with this allele

• Allele Symbol: Stk36^tm1Fjs
• Allele Name: targeted mutation 1, Frederic J de Sauvage
• Allele ID: MGI:3699625
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Stk36^tm1Fjs/Stk36^tm1Fjs	involves: 129S1/Sv * C57BL/6	MGI:3700129

Genotype
MGI:3700129

hm1

• Allelic Composition: Stk36^tm1Fjs/Stk36^tm1Fjs
• Genetic Background: involves: 129S1/Sv * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:116391 )

• media survival time is 10 days, although in the early generations, some can survive longer

growth/size/body

decreased body size ( J:116391 )

postnatal growth retardation ( J:116391 )

• appear healthy for the first 2-3 days after birth but fail to thrive thereafter and are profoundly growth retarded

nervous system

non-obstructive hydrocephaly ( J:116391 )

• develop a progressive communicating (nonobstructive) form of hydrocephalus that becomes apparent at P3

• Background Sensitivity: hydrocephalus becomes worse as mutants are further backcrossed into C57BL/6

behavior/neurological

ataxia ( J:116391 )

• upon ambulation, homozygotes are ataxic, stabilizing themselves with the tail and splayed legs and have a slight head tremor

respiratory system

rhinitis ( J:116391 )

• display bilateral suppurative rhinitis with infiltrating neutrophils in the nasal epithelium

abnormal lung development ( J:116391 )

• lungs of P7 homozygotes are immature and are similar to P2-P3 lungs

renal/urinary system

abnormal kidney development ( J:116391 )

• kidneys of P7 homozygotes are immature and are similar to P2-P3 kidneys

skeleton

abnormal cranium morphology ( J:116391 )

• E16.5-18.5 skulls are slightly brachycephalic

• however, skeletal formation appears normal, bones of the skull are present and properly located and exhibit no defects in fusion or ossification of bones, on in the axial/appendicular skeleton or in digit formation

domed cranium ( J:116391 )

• exhibit doming of the head

craniofacial

abnormal cranium morphology ( J:116391 )

• E16.5-18.5 skulls are slightly brachycephalic

• however, skeletal formation appears normal, bones of the skull are present and properly located and exhibit no defects in fusion or ossification of bones, on in the axial/appendicular skeleton or in digit formation

domed cranium ( J:116391 )

• exhibit doming of the head

hematopoietic system

thymus atrophy ( J:116391 )

• atrophy of the thymus, with massive apoptosis of lymphocytes

spleen atrophy ( J:116391 )

• atrophy of the spleen, with massive apoptosis of lymphocytes

immune system

thymus atrophy ( J:116391 )

• atrophy of the thymus, with massive apoptosis of lymphocytes

spleen atrophy ( J:116391 )

• atrophy of the spleen, with massive apoptosis of lymphocytes

rhinitis ( J:116391 )

• display bilateral suppurative rhinitis with infiltrating neutrophils in the nasal epithelium

reproductive system

male infertility ( J:116391 )

♂ • the two males that survive to 2 months of age are infertile

endocrine/exocrine glands

thymus atrophy ( J:116391 )

• atrophy of the thymus, with massive apoptosis of lymphocytes