Phenotypes associated with this allele

• Allele Symbol: Pfas^Sofa-2J
• Allele Name: short face 2 Jackson
• Allele ID: MGI:5476717
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Pfas^Sofa-2J/Pfas^+	B6(Cg)-Pfas^Sofa-2J/GrsrJ	MGI:5476718

Genotype
MGI:5476718

ht1

• Allelic Composition: Pfas^Sofa-2J/Pfas⁺
• Genetic Background: B6(Cg)-Pfas^Sofa-2J/GrsrJ

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

White belly spot on the Pfas^Sofa-2J/Pfas⁺ (right) mouse compared to wild-type (left)

vision/eye

abnormal eye morphology ( J:223062 )

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

microphthalmia ( J:223062 )

anophthalmia ( J:223062 )

adipose tissue

decreased total body fat amount ( J:223062 )

hematopoietic system

abnormal transitional stage B cell morphology ( J:223062 )

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

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 )

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

immune system

abnormal transitional stage B cell morphology ( J:223062 )

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

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 )

alveolar process atrophy ( J:223062 )

• some heterozgyotes have significantly receded alveolar bone

domed cranium ( J:223062 )

short snout ( J:194958 , J:223062 )

• in all heterozygotes (J:194958)

limbs/digits/tail

non-pigmented tail tip ( J:223062 )

• incomplete penetrance

integument

belly spot ( J:194958 , J:223062 )

• in approximately 80% of heterozgyotes (J:194958)

• incomplete penetrance (J:223062)

non-pigmented tail tip ( J:223062 )

• incomplete penetrance

pigmentation

belly spot ( J:194958 , J:223062 )

• in approximately 80% of heterozgyotes (J:194958)

• incomplete penetrance (J:223062)

non-pigmented tail tip ( J:223062 )

• incomplete penetrance

growth/size/body

alveolar process atrophy ( J:223062 )

• some heterozgyotes have significantly receded alveolar bone

short snout ( J:194958 , J:223062 )

• in all heterozygotes (J:194958)

decreased body mass index ( J:223062 )

♂ • males have significantly decreased whole body mass relative to wild type siblings

decreased lean body mass ( J:223062 )

♂ • males have significantly decreased lean whole body mass