Phenotypes associated with this allele

• Allele Symbol: Pfas^Sofa-3J
• Allele Name: short face 3 Jackson
• Allele ID: MGI:5514227
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Pfas^Sofa-3J/Pfas^+	B6(129S7)-Pfas^Sofa-3J/GrsrJ	MGI:5691737

Genotype
MGI:5691737

ht1

• Allelic Composition: Pfas^Sofa-3J/Pfas⁺
• Genetic Background: B6(129S7)-Pfas^Sofa-3J/GrsrJ

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

vision/eye

abnormal eye morphology ( J:223062 )

• a range of eye defects are found including mocrophthalmia and anophthalmia

microphthalmia ( J:223062 )

anophthalmia ( J:223062 )

craniofacial

abnormal cranium morphology ( J:223062 )

• the short face allelic series of mutants have shortened cranial length and domed skull with midfacial deficiency

premature cranial synchondrosis closure ( J:223062 )

• severely affected heterozygotes have premature ossification of one or more cranial base synchondroses

decreased cranium length ( J:223062 )

abnormal interfrontal bone morphology ( J:223062 )

• the interfrontal bone is diamond-shaped and prematurely fuses with the nasal bones

alveolar process atrophy ( J:223062 )

• some heterozgyotes have significantly receded alveolar bone

domed cranium ( J:223062 )

short snout ( J:223062 )

skeleton

abnormal cranium morphology ( J:223062 )

• the short face allelic series of mutants have shortened cranial length and domed skull with midfacial deficiency

premature cranial synchondrosis closure ( J:223062 )

• severely affected heterozygotes have premature ossification of one or more cranial base synchondroses

decreased cranium length ( J:223062 )

abnormal interfrontal bone morphology ( J:223062 )

• the interfrontal bone is diamond-shaped and prematurely fuses with the nasal bones

alveolar process atrophy ( J:223062 )

• some heterozgyotes have significantly receded alveolar bone

domed cranium ( J:223062 )

decreased bone mineral content ( J:223062 )

• particularly that of the skull

pigmentation

belly spot ( J:223062 )

• incomplete penetrance

non-pigmented tail tip ( J:223062 )

• incomplete penetrance

limbs/digits/tail

non-pigmented tail tip ( J:223062 )

• incomplete penetrance

integument

belly spot ( J:223062 )

• incomplete penetrance

non-pigmented tail tip ( J:223062 )

• incomplete penetrance

adipose tissue

decreased total body fat amount ( J:223062 )

decreased percent body fat/body weight ( J:223062 )

♀ • females assessed at 12 weeks of age by PIXImus densitometry have decreased whole body fat and percent body fat in females

growth/size/body

alveolar process atrophy ( J:223062 )

• some heterozgyotes have significantly receded alveolar bone

short snout ( J:223062 )

decreased lean body mass ( J:223062 )