Phenotypes associated with this allele

• Allele Symbol: Pfas^Sofa-5J
• Allele Name: short face 5 Jackson
• Allele ID: MGI:5514248
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Pfas^Sofa-5J/Pfas^+	B6(129S1)-Pfas^Sofa-5J/GrsrJ	MGI:5691775

Genotype
MGI:5691775

ht1

• Allelic Composition: Pfas^Sofa-5J/Pfas⁺
• Genetic Background: B6(129S1)-Pfas^Sofa-5J/GrsrJ

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

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 height ( J:223062 )

• assessed at 12 weeks of age

decreased cranium length ( J:223062 )

• assessed at 12 weeks of age

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

short maxilla ( J:223062 )

domed cranium ( J:223062 )

short snout ( J:223062 )

vision/eye

abnormal eye morphology ( J:223062 )

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

microphthalmia ( J:223062 )

anophthalmia ( 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 height ( J:223062 )

• assessed at 12 weeks of age

decreased cranium length ( J:223062 )

• assessed at 12 weeks of age

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

short maxilla ( J:223062 )

domed cranium ( J:223062 )

decreased bone mineral content ( J:223062 )

• particularly that of the skull

limbs/digits/tail

non-pigmented tail tip ( J:223062 )

growth/size/body

alveolar process atrophy ( J:223062 )

• some heterozgyotes have significantly receded alveolar bone

short snout ( J:223062 )

integument

belly spot ( J:223062 )

non-pigmented tail tip ( J:223062 )

pigmentation

belly spot ( J:223062 )

non-pigmented tail tip ( J:223062 )