Phenotypes associated with this allele

• Allele Symbol: En1^tm4(en)Alj
• Allele Name: targeted mutation 4, Alexandra L Joyner
• Allele ID: MGI:1930647
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	En1^tm4(en)Alj/En1^tm4(en)Alj	involves: 129S1/Sv * 129X1/SvJ	MGI:2175851

Genotype
MGI:2175851

hm1

• Allelic Composition: En1^tm4(en)Alj/En1^tm4(en)Alj
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

premature death ( J:50311 )

• about 67% survive to 3-4 weeks of age

• 50% survive to 8 weeks of age

reproductive system

abnormal fertility/fecundity ( J:50311 )

• about 2/3 of females are fertile

male infertility ( J:50311 )

♂ • all males are infertile

nervous system

abnormal brain morphology ( J:50311 )

• incomplete rescue of abnormal brain morphology

abnormal cerebellum development ( J:50311 )

• cerebellar cytoarchitecture largely normal although parts of the medial and anterior cerebellum are missing

decreased inferior colliculus size ( J:50311 )

• collicular cytoarchitecture largely normal although parts of the posterior colliculi are missing

limbs/digits/tail

abnormal digit morphology ( J:50311 )

• middle digits less severely affected

• display the double dorsal morphology of En1^tm1Alj

• posterior paws less affected than anterior paws

abnormal digit pigmentation ( J:50311 )

• hyperpigmentation developing at 3-4 weeks of age

polydactyly ( J:50311 )

• postaxial

• ectopic ventral digits on both fore and hind paws

syndactyly ( J:50311 )

skeleton

abnormal sternebra morphology ( J:50311 )

• partial fusion of the 2 halves of the sternal primordia

asymmetric sternocostal joints ( J:50311 )

abnormal sternum ossification ( J:50311 )

• delayed and irregular ossification

pigmentation

abnormal digit pigmentation ( J:50311 )

• hyperpigmentation developing at 3-4 weeks of age

integument

deformed nails ( J:50311 )

• ventral nail-like structures developing at 3-4 weeks of age

abnormal digit pigmentation ( J:50311 )

• hyperpigmentation developing at 3-4 weeks of age